GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 AND See cases
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 22, 2010
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000136658.5
Allele description [Variation Report for GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1]
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1
- Genes:
- ADAMTS14:ADAM metallopeptidase with thrombospondin type 1 motif 14 [Gene - OMIM - HGNC]
- LOC130003919:ATAC-STARR-seq lymphoblastoid active region 3440 [Gene]
- LOC130003920:ATAC-STARR-seq lymphoblastoid active region 3441 [Gene]
- LOC130003922:ATAC-STARR-seq lymphoblastoid active region 3442 [Gene]
- LOC130003923:ATAC-STARR-seq lymphoblastoid active region 3443 [Gene]
- LOC130003924:ATAC-STARR-seq lymphoblastoid active region 3444 [Gene]
- LOC130003928:ATAC-STARR-seq lymphoblastoid active region 3445 [Gene]
- LOC130003929:ATAC-STARR-seq lymphoblastoid active region 3446 [Gene]
- LOC130003930:ATAC-STARR-seq lymphoblastoid active region 3447 [Gene]
- LOC130003931:ATAC-STARR-seq lymphoblastoid active region 3448 [Gene]
- LOC130003932:ATAC-STARR-seq lymphoblastoid active region 3449 [Gene]
- LOC130003933:ATAC-STARR-seq lymphoblastoid active region 3450 [Gene]
- LOC130003934:ATAC-STARR-seq lymphoblastoid active region 3451 [Gene]
- LOC130003935:ATAC-STARR-seq lymphoblastoid active region 3452 [Gene]
- LOC130003936:ATAC-STARR-seq lymphoblastoid active region 3453 [Gene]
- LOC130003937:ATAC-STARR-seq lymphoblastoid active region 3454 [Gene]
- LOC130003938:ATAC-STARR-seq lymphoblastoid active region 3455 [Gene]
- LOC130003939:ATAC-STARR-seq lymphoblastoid active region 3456 [Gene]
- LOC130003940:ATAC-STARR-seq lymphoblastoid active region 3457 [Gene]
- LOC130003944:ATAC-STARR-seq lymphoblastoid active region 3460 [Gene]
- LOC130003945:ATAC-STARR-seq lymphoblastoid active region 3461 [Gene]
- LOC130003946:ATAC-STARR-seq lymphoblastoid active region 3462 [Gene]
- LOC130003947:ATAC-STARR-seq lymphoblastoid active region 3465 [Gene]
- LOC130003948:ATAC-STARR-seq lymphoblastoid active region 3466 [Gene]
- LOC130003949:ATAC-STARR-seq lymphoblastoid active region 3467 [Gene]
- LOC130003950:ATAC-STARR-seq lymphoblastoid active region 3468 [Gene]
- LOC130003955:ATAC-STARR-seq lymphoblastoid active region 3469 [Gene]
- LOC130003956:ATAC-STARR-seq lymphoblastoid active region 3470 [Gene]
- LOC130003957:ATAC-STARR-seq lymphoblastoid active region 3471 [Gene]
- LOC130003958:ATAC-STARR-seq lymphoblastoid active region 3472 [Gene]
- LOC130003959:ATAC-STARR-seq lymphoblastoid active region 3474 [Gene]
- LOC130003961:ATAC-STARR-seq lymphoblastoid active region 3475 [Gene]
- LOC130003962:ATAC-STARR-seq lymphoblastoid active region 3476 [Gene]
- LOC130003963:ATAC-STARR-seq lymphoblastoid active region 3477 [Gene]
- LOC130003964:ATAC-STARR-seq lymphoblastoid active region 3478 [Gene]
- LOC130003966:ATAC-STARR-seq lymphoblastoid active region 3479 [Gene]
- LOC130003967:ATAC-STARR-seq lymphoblastoid active region 3480 [Gene]
- LOC130003968:ATAC-STARR-seq lymphoblastoid active region 3481 [Gene]
- LOC130003969:ATAC-STARR-seq lymphoblastoid active region 3482 [Gene]
- LOC130003970:ATAC-STARR-seq lymphoblastoid active region 3483 [Gene]
- LOC130003971:ATAC-STARR-seq lymphoblastoid active region 3484 [Gene]
- LOC130003973:ATAC-STARR-seq lymphoblastoid active region 3485 [Gene]
- LOC130003975:ATAC-STARR-seq lymphoblastoid active region 3486 [Gene]
- LOC130003977:ATAC-STARR-seq lymphoblastoid active region 3487 [Gene]
- LOC130003978:ATAC-STARR-seq lymphoblastoid active region 3488 [Gene]
- LOC130003979:ATAC-STARR-seq lymphoblastoid active region 3489 [Gene]
- LOC130003981:ATAC-STARR-seq lymphoblastoid active region 3490 [Gene]
- LOC130003986:ATAC-STARR-seq lymphoblastoid active region 3492 [Gene]
- LOC130003987:ATAC-STARR-seq lymphoblastoid active region 3493 [Gene]
- LOC130003990:ATAC-STARR-seq lymphoblastoid active region 3494 [Gene]
- LOC130003993:ATAC-STARR-seq lymphoblastoid active region 3495 [Gene]
- LOC130003995:ATAC-STARR-seq lymphoblastoid active region 3496 [Gene]
- LOC130003997:ATAC-STARR-seq lymphoblastoid active region 3497 [Gene]
- LOC130003998:ATAC-STARR-seq lymphoblastoid active region 3498 [Gene]
- LOC130004000:ATAC-STARR-seq lymphoblastoid active region 3499 [Gene]
- LOC130004001:ATAC-STARR-seq lymphoblastoid active region 3500 [Gene]
- LOC130004003:ATAC-STARR-seq lymphoblastoid active region 3501 [Gene]
- LOC130004004:ATAC-STARR-seq lymphoblastoid active region 3502 [Gene]
- LOC130004006:ATAC-STARR-seq lymphoblastoid active region 3504 [Gene]
- LOC130004009:ATAC-STARR-seq lymphoblastoid active region 3505 [Gene]
- LOC130004013:ATAC-STARR-seq lymphoblastoid active region 3508 [Gene]
- LOC130004014:ATAC-STARR-seq lymphoblastoid active region 3510 [Gene]
- LOC130004015:ATAC-STARR-seq lymphoblastoid active region 3511 [Gene]
- LOC130004027:ATAC-STARR-seq lymphoblastoid active region 3513 [Gene]
- LOC130004028:ATAC-STARR-seq lymphoblastoid active region 3514 [Gene]
- LOC130004031:ATAC-STARR-seq lymphoblastoid active region 3515 [Gene]
- LOC130004032:ATAC-STARR-seq lymphoblastoid active region 3516 [Gene]
- LOC130004033:ATAC-STARR-seq lymphoblastoid active region 3517 [Gene]
- LOC130004034:ATAC-STARR-seq lymphoblastoid active region 3518 [Gene]
- LOC130004035:ATAC-STARR-seq lymphoblastoid active region 3519 [Gene]
- LOC130004036:ATAC-STARR-seq lymphoblastoid active region 3520 [Gene]
- LOC130004039:ATAC-STARR-seq lymphoblastoid active region 3524 [Gene]
- LOC130004041:ATAC-STARR-seq lymphoblastoid active region 3525 [Gene]
- LOC130004043:ATAC-STARR-seq lymphoblastoid active region 3526 [Gene]
- LOC130004044:ATAC-STARR-seq lymphoblastoid active region 3527 [Gene]
- LOC130004045:ATAC-STARR-seq lymphoblastoid active region 3529 [Gene]
- LOC130004046:ATAC-STARR-seq lymphoblastoid active region 3532 [Gene]
- LOC130004047:ATAC-STARR-seq lymphoblastoid active region 3533 [Gene]
- LOC130004048:ATAC-STARR-seq lymphoblastoid active region 3534 [Gene]
- LOC130004049:ATAC-STARR-seq lymphoblastoid active region 3535 [Gene]
- LOC130004050:ATAC-STARR-seq lymphoblastoid active region 3536 [Gene]
- LOC130004051:ATAC-STARR-seq lymphoblastoid active region 3537 [Gene]
- LOC130004053:ATAC-STARR-seq lymphoblastoid active region 3538 [Gene]
- LOC130004055:ATAC-STARR-seq lymphoblastoid active region 3540 [Gene]
- LOC130004057:ATAC-STARR-seq lymphoblastoid active region 3543 [Gene]
- LOC130004059:ATAC-STARR-seq lymphoblastoid active region 3544 [Gene]
- LOC130004060:ATAC-STARR-seq lymphoblastoid active region 3545 [Gene]
- LOC130004061:ATAC-STARR-seq lymphoblastoid active region 3546 [Gene]
- LOC130004062:ATAC-STARR-seq lymphoblastoid active region 3547 [Gene]
- LOC130004063:ATAC-STARR-seq lymphoblastoid active region 3548 [Gene]
- LOC130004064:ATAC-STARR-seq lymphoblastoid active region 3549 [Gene]
- LOC130004066:ATAC-STARR-seq lymphoblastoid active region 3551 [Gene]
- LOC130004070:ATAC-STARR-seq lymphoblastoid active region 3552 [Gene]
- LOC130004072:ATAC-STARR-seq lymphoblastoid active region 3553 [Gene]
- LOC130004073:ATAC-STARR-seq lymphoblastoid active region 3554 [Gene]
- LOC130004074:ATAC-STARR-seq lymphoblastoid active region 3555 [Gene]
- LOC130004075:ATAC-STARR-seq lymphoblastoid active region 3561 [Gene]
- LOC130004076:ATAC-STARR-seq lymphoblastoid active region 3562 [Gene]
- LOC130004078:ATAC-STARR-seq lymphoblastoid active region 3563 [Gene]
- LOC130004080:ATAC-STARR-seq lymphoblastoid active region 3564 [Gene]
- LOC130004082:ATAC-STARR-seq lymphoblastoid active region 3565 [Gene]
- LOC130004083:ATAC-STARR-seq lymphoblastoid active region 3566 [Gene]
- LOC130004084:ATAC-STARR-seq lymphoblastoid active region 3567 [Gene]
- LOC130004085:ATAC-STARR-seq lymphoblastoid active region 3568 [Gene]
- LOC130004086:ATAC-STARR-seq lymphoblastoid active region 3570 [Gene]
- LOC130004087:ATAC-STARR-seq lymphoblastoid active region 3571 [Gene]
- LOC130004089:ATAC-STARR-seq lymphoblastoid active region 3572 [Gene]
- LOC130004090:ATAC-STARR-seq lymphoblastoid active region 3574 [Gene]
- LOC130004091:ATAC-STARR-seq lymphoblastoid active region 3575 [Gene]
- LOC130004092:ATAC-STARR-seq lymphoblastoid active region 3576 [Gene]
- LOC130004096:ATAC-STARR-seq lymphoblastoid active region 3577 [Gene]
- LOC130004101:ATAC-STARR-seq lymphoblastoid active region 3578 [Gene]
- LOC130004102:ATAC-STARR-seq lymphoblastoid active region 3579 [Gene]
- LOC130004103:ATAC-STARR-seq lymphoblastoid active region 3580 [Gene]
- LOC130004105:ATAC-STARR-seq lymphoblastoid active region 3584 [Gene]
- LOC130004106:ATAC-STARR-seq lymphoblastoid active region 3585 [Gene]
- LOC130004107:ATAC-STARR-seq lymphoblastoid active region 3586 [Gene]
- LOC130004109:ATAC-STARR-seq lymphoblastoid active region 3587 [Gene]
- LOC130004110:ATAC-STARR-seq lymphoblastoid active region 3588 [Gene]
- LOC130004111:ATAC-STARR-seq lymphoblastoid active region 3589 [Gene]
- LOC130004112:ATAC-STARR-seq lymphoblastoid active region 3590 [Gene]
- LOC130004113:ATAC-STARR-seq lymphoblastoid active region 3591 [Gene]
- LOC130004114:ATAC-STARR-seq lymphoblastoid active region 3593 [Gene]
- LOC130004115:ATAC-STARR-seq lymphoblastoid active region 3594 [Gene]
- LOC130004116:ATAC-STARR-seq lymphoblastoid active region 3595 [Gene]
- LOC130004117:ATAC-STARR-seq lymphoblastoid active region 3596 [Gene]
- LOC130004118:ATAC-STARR-seq lymphoblastoid active region 3597 [Gene]
- LOC130004119:ATAC-STARR-seq lymphoblastoid active region 3598 [Gene]
- LOC130004122:ATAC-STARR-seq lymphoblastoid active region 3600 [Gene]
- LOC130004123:ATAC-STARR-seq lymphoblastoid active region 3601 [Gene]
- LOC130004124:ATAC-STARR-seq lymphoblastoid active region 3602 [Gene]
- LOC130004126:ATAC-STARR-seq lymphoblastoid active region 3603 [Gene]
- LOC130004127:ATAC-STARR-seq lymphoblastoid active region 3604 [Gene]
- LOC130004128:ATAC-STARR-seq lymphoblastoid active region 3605 [Gene]
- LOC130004129:ATAC-STARR-seq lymphoblastoid active region 3606 [Gene]
- LOC130004131:ATAC-STARR-seq lymphoblastoid active region 3608 [Gene]
- LOC130003921:ATAC-STARR-seq lymphoblastoid silent region 2409 [Gene]
- LOC130003925:ATAC-STARR-seq lymphoblastoid silent region 2410 [Gene]
- LOC130003926:ATAC-STARR-seq lymphoblastoid silent region 2411 [Gene]
- LOC130003927:ATAC-STARR-seq lymphoblastoid silent region 2412 [Gene]
- LOC130003941:ATAC-STARR-seq lymphoblastoid silent region 2416 [Gene]
- LOC130003942:ATAC-STARR-seq lymphoblastoid silent region 2417 [Gene]
- LOC130003943:ATAC-STARR-seq lymphoblastoid silent region 2418 [Gene]
- LOC130003951:ATAC-STARR-seq lymphoblastoid silent region 2421 [Gene]
- LOC130003952:ATAC-STARR-seq lymphoblastoid silent region 2422 [Gene]
- LOC130003953:ATAC-STARR-seq lymphoblastoid silent region 2423 [Gene]
- LOC130003954:ATAC-STARR-seq lymphoblastoid silent region 2424 [Gene]
- LOC130003960:ATAC-STARR-seq lymphoblastoid silent region 2425 [Gene]
- LOC130003965:ATAC-STARR-seq lymphoblastoid silent region 2426 [Gene]
- LOC130003972:ATAC-STARR-seq lymphoblastoid silent region 2427 [Gene]
- LOC130003974:ATAC-STARR-seq lymphoblastoid silent region 2428 [Gene]
- LOC130003976:ATAC-STARR-seq lymphoblastoid silent region 2429 [Gene]
- LOC130003980:ATAC-STARR-seq lymphoblastoid silent region 2430 [Gene]
- LOC130003982:ATAC-STARR-seq lymphoblastoid silent region 2431 [Gene]
- LOC130003983:ATAC-STARR-seq lymphoblastoid silent region 2432 [Gene]
- LOC130003984:ATAC-STARR-seq lymphoblastoid silent region 2433 [Gene]
- LOC130003985:ATAC-STARR-seq lymphoblastoid silent region 2434 [Gene]
- LOC130003988:ATAC-STARR-seq lymphoblastoid silent region 2435 [Gene]
- LOC130003989:ATAC-STARR-seq lymphoblastoid silent region 2436 [Gene]
- LOC130003991:ATAC-STARR-seq lymphoblastoid silent region 2437 [Gene]
- LOC130003992:ATAC-STARR-seq lymphoblastoid silent region 2438 [Gene]
- LOC130003994:ATAC-STARR-seq lymphoblastoid silent region 2440 [Gene]
- LOC130003996:ATAC-STARR-seq lymphoblastoid silent region 2441 [Gene]
- LOC130003999:ATAC-STARR-seq lymphoblastoid silent region 2443 [Gene]
- LOC130004002:ATAC-STARR-seq lymphoblastoid silent region 2444 [Gene]
- LOC130004005:ATAC-STARR-seq lymphoblastoid silent region 2445 [Gene]
- LOC130004007:ATAC-STARR-seq lymphoblastoid silent region 2446 [Gene]
- LOC130004008:ATAC-STARR-seq lymphoblastoid silent region 2447 [Gene]
- LOC130004010:ATAC-STARR-seq lymphoblastoid silent region 2448 [Gene]
- LOC130004011:ATAC-STARR-seq lymphoblastoid silent region 2449 [Gene]
- LOC130004012:ATAC-STARR-seq lymphoblastoid silent region 2450 [Gene]
- LOC130004016:ATAC-STARR-seq lymphoblastoid silent region 2451 [Gene]
- LOC130004017:ATAC-STARR-seq lymphoblastoid silent region 2452 [Gene]
- LOC130004018:ATAC-STARR-seq lymphoblastoid silent region 2453 [Gene]
- LOC130004019:ATAC-STARR-seq lymphoblastoid silent region 2454 [Gene]
- LOC130004020:ATAC-STARR-seq lymphoblastoid silent region 2455 [Gene]
- LOC130004021:ATAC-STARR-seq lymphoblastoid silent region 2456 [Gene]
- LOC130004022:ATAC-STARR-seq lymphoblastoid silent region 2457 [Gene]
- LOC130004023:ATAC-STARR-seq lymphoblastoid silent region 2458 [Gene]
- LOC130004024:ATAC-STARR-seq lymphoblastoid silent region 2459 [Gene]
- LOC130004025:ATAC-STARR-seq lymphoblastoid silent region 2461 [Gene]
- LOC130004026:ATAC-STARR-seq lymphoblastoid silent region 2462 [Gene]
- LOC130004029:ATAC-STARR-seq lymphoblastoid silent region 2463 [Gene]
- LOC130004030:ATAC-STARR-seq lymphoblastoid silent region 2464 [Gene]
- LOC130004037:ATAC-STARR-seq lymphoblastoid silent region 2465 [Gene]
- LOC130004038:ATAC-STARR-seq lymphoblastoid silent region 2466 [Gene]
- LOC130004040:ATAC-STARR-seq lymphoblastoid silent region 2467 [Gene]
- LOC130004042:ATAC-STARR-seq lymphoblastoid silent region 2468 [Gene]
- LOC130004052:ATAC-STARR-seq lymphoblastoid silent region 2471 [Gene]
- LOC130004054:ATAC-STARR-seq lymphoblastoid silent region 2472 [Gene]
- LOC130004056:ATAC-STARR-seq lymphoblastoid silent region 2473 [Gene]
- LOC130004058:ATAC-STARR-seq lymphoblastoid silent region 2474 [Gene]
- LOC130004065:ATAC-STARR-seq lymphoblastoid silent region 2475 [Gene]
- LOC130004067:ATAC-STARR-seq lymphoblastoid silent region 2476 [Gene]
- LOC130004068:ATAC-STARR-seq lymphoblastoid silent region 2477 [Gene]
- LOC130004069:ATAC-STARR-seq lymphoblastoid silent region 2478 [Gene]
- LOC130004071:ATAC-STARR-seq lymphoblastoid silent region 2479 [Gene]
- LOC130004077:ATAC-STARR-seq lymphoblastoid silent region 2483 [Gene]
- LOC130004079:ATAC-STARR-seq lymphoblastoid silent region 2484 [Gene]
- LOC130004081:ATAC-STARR-seq lymphoblastoid silent region 2486 [Gene]
- LOC130004088:ATAC-STARR-seq lymphoblastoid silent region 2487 [Gene]
- LOC130004093:ATAC-STARR-seq lymphoblastoid silent region 2488 [Gene]
- LOC130004094:ATAC-STARR-seq lymphoblastoid silent region 2489 [Gene]
- LOC130004095:ATAC-STARR-seq lymphoblastoid silent region 2490 [Gene]
- LOC130004097:ATAC-STARR-seq lymphoblastoid silent region 2491 [Gene]
- LOC130004098:ATAC-STARR-seq lymphoblastoid silent region 2492 [Gene]
- LOC130004099:ATAC-STARR-seq lymphoblastoid silent region 2493 [Gene]
- LOC130004100:ATAC-STARR-seq lymphoblastoid silent region 2494 [Gene]
- LOC130004104:ATAC-STARR-seq lymphoblastoid silent region 2495 [Gene]
- LOC130004108:ATAC-STARR-seq lymphoblastoid silent region 2498 [Gene]
- LOC130004120:ATAC-STARR-seq lymphoblastoid silent region 2500 [Gene]
- LOC130004121:ATAC-STARR-seq lymphoblastoid silent region 2504 [Gene]
- LOC130004125:ATAC-STARR-seq lymphoblastoid silent region 2505 [Gene]
- LOC130004130:ATAC-STARR-seq lymphoblastoid silent region 2508 [Gene]
- LOC130004132:ATAC-STARR-seq lymphoblastoid silent region 2509 [Gene]
- LOC130004133:ATAC-STARR-seq lymphoblastoid silent region 2510 [Gene]
- LOC130004134:ATAC-STARR-seq lymphoblastoid silent region 2511 [Gene]
- LOC130004135:ATAC-STARR-seq lymphoblastoid silent region 2512 [Gene]
- LOC130004136:ATAC-STARR-seq lymphoblastoid silent region 2513 [Gene]
- LOC130004137:ATAC-STARR-seq lymphoblastoid silent region 2514 [Gene]
- LOC130004138:ATAC-STARR-seq lymphoblastoid silent region 2515 [Gene]
- AGAP5:ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 [Gene - HGNC]
- LOC126860951:BRD4-independent group 4 enhancer GRCh37_chr10:71566529-71567728 [Gene]
- LOC126860960:BRD4-independent group 4 enhancer GRCh37_chr10:75672789-75673988 [Gene]
- CDH23-AS1:CDH23 antisense RNA 1 [Gene - HGNC]
- LOC126860948:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:68197862-68199061 [Gene]
- LOC126860952:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:73006150-73007349 [Gene]
- LOC126860953:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:73485282-73486481 [Gene]
- LOC126860955:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:75006455-75007654 [Gene]
- LOC126860957:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:75548316-75549515 [Gene]
- LOC126860958:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:75646944-75648143 [Gene]
- LOC126860959:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:75668366-75669565 [Gene]
- LOC116216114:CRISPRi-validated cis-regulatory element chr10.2252 [Gene]
- LOC116216115:CRISPRi-validated cis-regulatory element chr10.2661 [Gene]
- LOC116216116:CRISPRi-validated cis-regulatory element chr10.2662 [Gene]
- DDIT4-AS1:DDIT4 antisense RNA 1 [Gene - HGNC]
- DDX21:DExD-box helicase 21 [Gene - OMIM - HGNC]
- DDX50:DExD-box helicase 50 [Gene - OMIM - HGNC]
- DDIT4:DNA damage inducible transcript 4 [Gene - OMIM - HGNC]
- DNA2:DNA replication helicase/nuclease 2 [Gene - OMIM - HGNC]
- DNAJC9-AS1:DNAJC9 and MRPS16 antisense RNA 1 [Gene - HGNC]
- DNAJB12:DnaJ heat shock protein family (Hsp40) member B12 [Gene - OMIM - HGNC]
- DNAJC12:DnaJ heat shock protein family (Hsp40) member C12 [Gene - OMIM - HGNC]
- DNAJC9:DnaJ heat shock protein family (Hsp40) member C9 [Gene - OMIM - HGNC]
- LOC120807611:H3K27me3-DHS negatively-acting regulatory element H2 [Gene]
- HERC4:HECT and RLD domain containing E3 ubiquitin protein ligase 4 [Gene - OMIM - HGNC]
- LOC111365196:HNF4 motif-containing MPRA enhancer 70 [Gene]
- JMJD1C-AS1:JMJD1C antisense RNA 1 [Gene - HGNC]
- JMJD1C-AS2:JMJD1C antisense RNA 2 [Gene - HGNC]
- LOC126860947:MED14-independent group 3 enhancer GRCh37_chr10:67374664-67375863 [Gene]
- LOC126860949:MED14-independent group 3 enhancer GRCh37_chr10:70847990-70849189 [Gene]
- LOC126860950:MED14-independent group 3 enhancer GRCh37_chr10:70991590-70992789 [Gene]
- LOC126860956:MED14-independent group 3 enhancer GRCh37_chr10:75503472-75504671 [Gene]
- LOC129390196:MPRA-validated peak1002 silencer [Gene]
- LOC129390197:MPRA-validated peak1005 silencer [Gene]
- LOC129390198:MPRA-validated peak1006 silencer [Gene]
- LOC129390199:MPRA-validated peak1010 silencer [Gene]
- LOC129390200:MPRA-validated peak1011 silencer [Gene]
- LOC129390201:MPRA-validated peak1012 silencer [Gene]
- LOC129390202:MPRA-validated peak1013 silencer [Gene]
- LOC129390203:MPRA-validated peak1017 silencer [Gene]
- LOC129390204:MPRA-validated peak1019 silencer [Gene]
- LOC129390205:MPRA-validated peak1024 silencer [Gene]
- LOC129390178:MPRA-validated peak967 silencer [Gene]
- LOC129390179:MPRA-validated peak969 silencer [Gene]
- LOC129390180:MPRA-validated peak971 silencer [Gene]
- LOC129390181:MPRA-validated peak972 silencer [Gene]
- LOC129390182:MPRA-validated peak974 silencer [Gene]
- LOC129390183:MPRA-validated peak975 silencer [Gene]
- LOC129390184:MPRA-validated peak978 silencer [Gene]
- LOC129390185:MPRA-validated peak981 silencer [Gene]
- LOC129390186:MPRA-validated peak982 silencer [Gene]
- LOC129390187:MPRA-validated peak984 silencer [Gene]
- LOC129390188:MPRA-validated peak985 silencer [Gene]
- LOC129390189:MPRA-validated peak989 silencer [Gene]
- LOC129390190:MPRA-validated peak990 silencer [Gene]
- LOC129390191:MPRA-validated peak991 silencer [Gene]
- LOC129390192:MPRA-validated peak992 silencer [Gene]
- LOC129390193:MPRA-validated peak994 silencer [Gene]
- LOC129390194:MPRA-validated peak997 silencer [Gene]
- LOC129390195:MPRA-validated peak999 silencer [Gene]
- MSS51:MSS51 mitochondrial translational activator [Gene - OMIM - HGNC]
- NDST2:N-deacetylase and N-sulfotransferase 2 [Gene - OMIM - HGNC]
- NDST2-ZSWIM8-AS1:NDST2-ZSWIM8-AS1 readthrough [Gene]
- LOC108178982:NEUROG3 upstream region homotypic clusters of transcription factor binding sites enhancer [Gene]
- LOC111365158:NFE2L2 motif-containing MPRA enhancers 43 and 138 [Gene]
- LOC132089804:Neanderthal introgressed variant-containing enhancer experimental_14285 [Gene]
- LOC132089805:Neanderthal introgressed variant-containing enhancer experimental_14356 [Gene]
- LOC132089806:Neanderthal introgressed variant-containing enhancer experimental_14377 [Gene]
- LOC132089807:Neanderthal introgressed variant-containing enhancer experimental_14431 [Gene]
- LOC132089808:Neanderthal introgressed variant-containing enhancer experimental_14444 [Gene]
- LOC132089809:Neanderthal introgressed variant-containing enhancer experimental_14489 [Gene]
- LOC132089810:Neanderthal introgressed variant-containing enhancer experimental_14563 [Gene]
- LOC132089811:Neanderthal introgressed variant-containing enhancer experimental_14639 [Gene]
- LOC132090813:Neanderthal introgressed variant-containing enhancer experimental_14760 [Gene]
- LOC132089812:Neanderthal introgressed variant-containing enhancer experimental_14780 [Gene]
- LOC132089813:Neanderthal introgressed variant-containing enhancer experimental_14849 [Gene]
- LOC132090814:Neanderthal introgressed variant-containing enhancer experimental_15152 [Gene]
- LOC132089814:Neanderthal introgressed variant-containing enhancer experimental_15172 [Gene]
- LOC132089815:Neanderthal introgressed variant-containing enhancer experimental_15180 [Gene]
- LOC132089816:Neanderthal introgressed variant-containing enhancer experimental_15277 [Gene]
- LOC132089817:Neanderthal introgressed variant-containing enhancer experimental_15319 [Gene]
- LOC132089818:Neanderthal introgressed variant-containing enhancer experimental_15324 [Gene]
- LOC132089819:Neanderthal introgressed variant-containing enhancer experimental_15354 [Gene]
- LOC132089820:Neanderthal introgressed variant-containing enhancer experimental_15439 [Gene]
- LOC132089821:Neanderthal introgressed variant-containing enhancer experimental_15446 [Gene]
- LOC132089822:Neanderthal introgressed variant-containing enhancer experimental_15534 [Gene]
- LOC132089823:Neanderthal introgressed variant-containing enhancer experimental_15618 [Gene]
- LOC132089824:Neanderthal introgressed variant-containing enhancer experimental_15623 [Gene]
- LOC132090815:Neanderthal introgressed variant-containing enhancer experimental_15629 [Gene]
- LOC132090816:Neanderthal introgressed variant-containing enhancer experimental_15668 [Gene]
- LOC132089825:Neanderthal introgressed variant-containing enhancer experimental_15678 [Gene]
- LOC132089826:Neanderthal introgressed variant-containing enhancer experimental_15807 [Gene]
- LOC132089827:Neanderthal introgressed variant-containing enhancer experimental_15830 [Gene]
- LOC132089828:Neanderthal introgressed variant-containing enhancer experimental_15959 [Gene]
- LOC132090817:Neanderthal introgressed variant-containing enhancer experimental_15994 [Gene]
- LOC132090818:Neanderthal introgressed variant-containing enhancer experimental_16073 [Gene]
- LOC132089829:Neanderthal introgressed variant-containing enhancer experimental_16132 [Gene]
- LOC132089830:Neanderthal introgressed variant-containing enhancer experimental_16136 [Gene]
- LOC132089831:Neanderthal introgressed variant-containing enhancer experimental_16144 [Gene]
- LOC132089832:Neanderthal introgressed variant-containing enhancer experimental_16173 [Gene]
- LOC132089833:Neanderthal introgressed variant-containing enhancer experimental_16197 [Gene]
- LOC132090819:Neanderthal introgressed variant-containing enhancer experimental_16219 [Gene]
- LOC132089834:Neanderthal introgressed variant-containing enhancer experimental_16253 [Gene]
- LOC132089835:Neanderthal introgressed variant-containing enhancer experimental_16457 [Gene]
- LOC132089836:Neanderthal introgressed variant-containing enhancer experimental_16478 [Gene]
- LOC132089837:Neanderthal introgressed variant-containing enhancer experimental_16557 [Gene]
- LOC132089838:Neanderthal introgressed variant-containing enhancer experimental_16564 [Gene]
- LOC132089839:Neanderthal introgressed variant-containing enhancer experimental_16571 [Gene]
- LOC132089840:Neanderthal introgressed variant-containing enhancer experimental_16583 [Gene]
- LOC132089841:Neanderthal introgressed variant-containing enhancer experimental_16593 [Gene]
- LOC132089842:Neanderthal introgressed variant-containing enhancer experimental_16635 [Gene]
- LOC132089843:Neanderthal introgressed variant-containing enhancer experimental_16643 [Gene]
- LOC132089844:Neanderthal introgressed variant-containing enhancer experimental_16656 [Gene]
- LOC132089845:Neanderthal introgressed variant-containing enhancer experimental_16674 [Gene]
- LOC132089846:Neanderthal introgressed variant-containing enhancer experimental_16683 [Gene]
- LOC132090820:Neanderthal introgressed variant-containing enhancer experimental_16686/16687 [Gene]
- LOC132089847:Neanderthal introgressed variant-containing enhancer experimental_16694 [Gene]
- LOC132089849:Neanderthal introgressed variant-containing enhancer experimental_16818 [Gene]
- LOC132089850:Neanderthal introgressed variant-containing enhancer experimental_16833 [Gene]
- LOC132089851:Neanderthal introgressed variant-containing enhancer experimental_16857 [Gene]
- LOC132089852:Neanderthal introgressed variant-containing enhancer experimental_16866 [Gene]
- LOC132089853:Neanderthal introgressed variant-containing enhancer experimental_16874 [Gene]
- LOC132089854:Neanderthal introgressed variant-containing enhancer experimental_16884 [Gene]
- LOC132089855:Neanderthal introgressed variant-containing enhancer experimental_16893 [Gene]
- LOC132089856:Neanderthal introgressed variant-containing enhancer experimental_16897 [Gene]
- LOC132089857:Neanderthal introgressed variant-containing enhancer experimental_16901 [Gene]
- LOC132089858:Neanderthal introgressed variant-containing enhancer experimental_16907 [Gene]
- LOC132089859:Neanderthal introgressed variant-containing enhancer experimental_16918 [Gene]
- LOC132090821:Neanderthal introgressed variant-containing enhancer experimental_16959 [Gene]
- LOC132089860:Neanderthal introgressed variant-containing enhancer experimental_16968 [Gene]
- LOC132089862:Neanderthal introgressed variant-containing enhancer experimental_16991 [Gene]
- LOC132090822:Neanderthal introgressed variant-containing enhancer experimental_16994 [Gene]
- LOC132089863:Neanderthal introgressed variant-containing enhancer experimental_16995 [Gene]
- LOC132089864:Neanderthal introgressed variant-containing enhancer experimental_17069 [Gene]
- LOC132090823:Neanderthal introgressed variant-containing enhancer experimental_17237 [Gene]
- LOC132089865:Neanderthal introgressed variant-containing enhancer experimental_17283 [Gene]
- LOC132089866:Neanderthal introgressed variant-containing enhancer experimental_17317 [Gene]
- LOC132211102:Neanderthal introgressed variant-containing enhancers experimental_16661/16662 and experimental_16666/16667 [Gene]
- LOC126860946:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:65466673-65467872 [Gene]
- LOC126860954:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:73526094-73527293 [Gene]
- LOC124416834:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:74081426-74082625 [Gene]
- LOC126860961:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:75691709-75692908 [Gene]
- PPP3CB-AS1:PPP3CB antisense RNA 1 (head to head) [Gene - HGNC]
- RUFY2:RUN and FYVE domain containing 2 [Gene - OMIM - HGNC]
- SEC24C:SEC24 homolog C, COPII coat complex component [Gene - OMIM - HGNC]
- LOC107832851:SIRT1 promoter region [Gene]
- SPOCK2:SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2 [Gene - OMIM - HGNC]
- SYNPO2L-AS1:SYNPO2L antisense RNA 1 [Gene - HGNC]
- LOC111946250:Sharpr-MPRA regulatory region 10071 [Gene]
- LOC124416843:Sharpr-MPRA regulatory region 10124 [Gene]
- LOC121815944:Sharpr-MPRA regulatory region 10829 [Gene]
- LOC111982866:Sharpr-MPRA regulatory region 10859 [Gene]
- LOC111982867:Sharpr-MPRA regulatory region 11165 [Gene]
- LOC121815947:Sharpr-MPRA regulatory region 11817 [Gene]
- LOC121366061:Sharpr-MPRA regulatory region 1217 [Gene]
- LOC124416835:Sharpr-MPRA regulatory region 12193 [Gene]
- LOC111982868:Sharpr-MPRA regulatory region 12298 [Gene]
- LOC121815945:Sharpr-MPRA regulatory region 12376 [Gene]
- LOC124416837:Sharpr-MPRA regulatory region 12879 [Gene]
- LOC124403971:Sharpr-MPRA regulatory region 12986 [Gene]
- LOC121815949:Sharpr-MPRA regulatory region 13746 [Gene]
- LOC124416844:Sharpr-MPRA regulatory region 13796 [Gene]
- LOC111982865:Sharpr-MPRA regulatory region 14270 [Gene]
- LOC121366059:Sharpr-MPRA regulatory region 14353 [Gene]
- LOC111982870:Sharpr-MPRA regulatory region 14427 [Gene]
- LOC124403970:Sharpr-MPRA regulatory region 14987 [Gene]
- LOC111982869:Sharpr-MPRA regulatory region 2121 [Gene]
- LOC121366057:Sharpr-MPRA regulatory region 2403 [Gene]
- LOC111982864:Sharpr-MPRA regulatory region 2430 [Gene]
- LOC124416841:Sharpr-MPRA regulatory region 295 [Gene]
- LOC124403975:Sharpr-MPRA regulatory region 3619 [Gene]
- LOC121815946:Sharpr-MPRA regulatory region 4082 [Gene]
- LOC124416840:Sharpr-MPRA regulatory region 4338 [Gene]
- LOC124416833:Sharpr-MPRA regulatory region 4371 [Gene]
- LOC121366058:Sharpr-MPRA regulatory region 4423 [Gene]
- LOC124416842:Sharpr-MPRA regulatory region 4496 [Gene]
- LOC121366060:Sharpr-MPRA regulatory region 4598 [Gene]
- LOC124416839:Sharpr-MPRA regulatory region 4994 [Gene]
- LOC121815943:Sharpr-MPRA regulatory region 5024 [Gene]
- LOC124403966:Sharpr-MPRA regulatory region 5662 [Gene]
- LOC111982863:Sharpr-MPRA regulatory region 5966 [Gene]
- LOC124403973:Sharpr-MPRA regulatory region 5989 [Gene]
- LOC121366062:Sharpr-MPRA regulatory region 6662 [Gene]
- LOC124416836:Sharpr-MPRA regulatory region 7737 [Gene]
- LOC124403972:Sharpr-MPRA regulatory region 7890 [Gene]
- LOC111982871:Sharpr-MPRA regulatory region 7934 [Gene]
- LOC111949323:Sharpr-MPRA regulatory region 82 [Gene]
- LOC121815948:Sharpr-MPRA regulatory region 8691 [Gene]
- LOC124403976:Sharpr-MPRA regulatory region 8837 [Gene]
- LOC124403969:Sharpr-MPRA regulatory region 9231 [Gene]
- LOC124403968:Sharpr-MPRA regulatory region 9742 [Gene]
- LOC124403967:Sharpr-MPRA regulatory region 9763 [Gene]
- LOC124416838:Sharpr-MPRA regulatory region 9775 [Gene]
- LOC124403974:Sharpr-MPRA regulatory regions 12566 and 14132 [Gene]
- SUPV3L1:Suv3 like RNA helicase [Gene - OMIM - HGNC]
- UNC5B-AS1:UNC5B antisense RNA 1 [Gene - HGNC]
- VSIR:V-set immunoregulatory receptor [Gene - OMIM - HGNC]
- LOC110121366:VISTA enhancer hs1437 [Gene]
- LOC110121382:VISTA enhancer hs1500 [Gene]
- LOC110121485:VISTA enhancer hs2142 [Gene]
- LOC110120903:VISTA enhancer hs595 [Gene]
- VPS26A:VPS26 retromer complex component A [Gene - OMIM - HGNC]
- ZSWIM8-AS1:ZSWIM8 antisense RNA 1 [Gene - HGNC]
- ASCC1:activating signal cointegrator 1 complex subunit 1 [Gene - OMIM - HGNC]
- AP3M1:adaptor related protein complex 3 subunit mu 1 [Gene - OMIM - HGNC]
- ADK:adenosine kinase [Gene - OMIM - HGNC]
- ANAPC16:anaphase promoting complex subunit 16 [Gene - OMIM - HGNC]
- ANXA7:annexin A7 [Gene - OMIM - HGNC]
- AIFM2:apoptosis inducing factor mitochondria associated 2 [Gene - OMIM - HGNC]
- ATOH7:atonal bHLH transcription factor 7 [Gene - OMIM - HGNC]
- CDH23:cadherin related 23 [Gene - OMIM - HGNC]
- CAMK2G:calcium/calmodulin dependent protein kinase II gamma [Gene - OMIM - HGNC]
- CHST3:carbohydrate sulfotransferase 3 [Gene - OMIM - HGNC]
- COMTD1:catechol-O-methyltransferase domain containing 1 [Gene - HGNC]
- CTNNA3:catenin alpha 3 [Gene - OMIM - HGNC]
- CCAR1:cell division cycle and apoptosis regulator 1 [Gene - OMIM - HGNC]
- C10orf105:chromosome 10 open reading frame 105 [Gene - HGNC]
- C10orf55:chromosome 10 putative open reading frame 55 [Gene - HGNC]
- CFAP70:cilia and flagella associated protein 70 [Gene - OMIM - HGNC]
- CHCHD1:coiled-coil-helix-coiled-coil-helix domain containing 1 [Gene - OMIM - HGNC]
- COL13A1:collagen type XIII alpha 1 chain [Gene - OMIM - HGNC]
- DUSP13A:dual specificity phosphatase 13A [Gene - HGNC]
- DUSP13B:dual specificity phosphatase 13B [Gene - OMIM - HGNC]
- DUSP29:dual specificity phosphatase 29 [Gene - OMIM - HGNC]
- ECD:ecdysoneless cell cycle regulator [Gene - OMIM - HGNC]
- EIF4EBP2:eukaryotic translation initiation factor 4E binding protein 2 [Gene - OMIM - HGNC]
- FAM149B1:family with sequence similarity 149 member B1 [Gene - OMIM - HGNC]
- FAM241B:family with sequence similarity 241 member B [Gene - HGNC]
- FUT11:fucosyltransferase 11 [Gene - OMIM - HGNC]
- HNRNPH3:heterogeneous nuclear ribonucleoprotein H3 [Gene - OMIM - HGNC]
- HK1:hexokinase 1 [Gene - OMIM - HGNC]
- HKDC1:hexokinase domain containing 1 [Gene - OMIM - HGNC]
- PPA1:inorganic pyrophosphatase 1 [Gene - OMIM - HGNC]
- JMJD1C:jumonji domain containing 1C [Gene - OMIM - HGNC]
- KIFBP:kinesin family binding protein [Gene - OMIM - HGNC]
- LRRC20:leucine rich repeat containing 20 [Gene - HGNC]
- LRRTM3:leucine rich repeat transmembrane neuronal 3 [Gene - OMIM - HGNC]
- LINC01515:long intergenic non-protein coding RNA 1515 [Gene - HGNC]
- LINC02622:long intergenic non-protein coding RNA 2622 [Gene - HGNC]
- LINC02636:long intergenic non-protein coding RNA 2636 [Gene - HGNC]
- LINC02651:long intergenic non-protein coding RNA 2651 [Gene - HGNC]
- LINC02671:long intergenic non-protein coding RNA 2671 [Gene - HGNC]
- KAT6B:lysine acetyltransferase 6B [Gene - OMIM - HGNC]
- MACROH2A2:macroH2A.2 histone [Gene - OMIM - HGNC]
- MIR4676:microRNA 4676 [Gene - HGNC]
- MIR7151:microRNA 7151 [Gene - HGNC]
- MIR7152:microRNA 7152 [Gene - HGNC]
- MCU:mitochondrial calcium uniporter [Gene - OMIM - HGNC]
- MICU1:mitochondrial calcium uptake 1 [Gene - OMIM - HGNC]
- MRPS16:mitochondrial ribosomal protein S16 [Gene - OMIM - HGNC]
- MYPN:myopalladin [Gene - OMIM - HGNC]
- MYOZ1:myozenin 1 [Gene - OMIM - HGNC]
- NEUROG3:neurogenin 3 [Gene - OMIM - HGNC]
- NPFFR1:neuropeptide FF receptor 1 [Gene - OMIM - HGNC]
- NODAL:nodal growth differentiation factor [Gene - OMIM - HGNC]
- NUDT13:nudix hydrolase 13 [Gene - OMIM - HGNC]
- OIT3:oncoprotein induced transcript 3 [Gene - OMIM - HGNC]
- PRF1:perforin 1 [Gene - OMIM - HGNC]
- PBLD:phenazine biosynthesis like protein domain containing [Gene - OMIM - HGNC]
- PALD1:phosphatase domain containing paladin 1 [Gene - OMIM - HGNC]
- PLA2G12B:phospholipase A2 group XIIB [Gene - OMIM - HGNC]
- PLAU:plasminogen activator, urokinase [Gene - OMIM - HGNC]
- P4HA1:prolyl 4-hydroxylase subunit alpha 1 [Gene - OMIM - HGNC]
- PSAP:prosaposin [Gene - OMIM - HGNC]
- PPP3CB:protein phosphatase 3 catalytic subunit beta [Gene - OMIM - HGNC]
- PCBD1:pterin-4 alpha-carbinolamine dehydratase 1 [Gene - OMIM - HGNC]
- REEP3:receptor accessory protein 3 [Gene - OMIM - HGNC]
- SAR1A:secretion associated Ras related GTPase 1A [Gene - OMIM - HGNC]
- SRGN:serglycin [Gene - OMIM - HGNC]
- SIRT1:sirtuin 1 [Gene - OMIM - HGNC]
- SNORD172:small nucleolar RNA, C/D box 172 [Gene - HGNC]
- SNORD98:small nucleolar RNA, C/D box 98 [Gene - HGNC]
- SNORA11F:small nucleolar RNA, H/ACA box 11F [Gene - HGNC]
- SLC25A16:solute carrier family 25 member 16 [Gene - OMIM - HGNC]
- SLC29A3:solute carrier family 29 member 3 [Gene - OMIM - HGNC]
- SGPL1:sphingosine-1-phosphate lyase 1 [Gene - OMIM - HGNC]
- SAMD8:sterile alpha motif domain containing 8 [Gene - OMIM - HGNC]
- STOX1:storkhead box 1 [Gene - OMIM - HGNC]
- SYNPO2L:synaptopodin 2 like [Gene - HGNC]
- TRS-TGA1-1:tRNA-Ser (anticodon TGA) 1-1 [Gene - HGNC]
- TACR2:tachykinin receptor 2 [Gene - OMIM - HGNC]
- TET1:tet methylcytosine dioxygenase 1 [Gene - OMIM - HGNC]
- TSPAN15:tetraspanin 15 [Gene - OMIM - HGNC]
- TBATA:thymus, brain and testes associated [Gene - OMIM - HGNC]
- TYSND1:trypsin like peroxisomal matrix peptidase 1 [Gene - OMIM - HGNC]
- USP54:ubiquitin specific peptidase 54 [Gene - HGNC]
- UNC5B:unc-5 netrin receptor B [Gene - OMIM - HGNC]
- LOC101928961:uncharacterized LOC101928961 [Gene]
- LOC101928994:uncharacterized LOC101928994 [Gene]
- LOC101929165:uncharacterized LOC101929165 [Gene]
- LOC102723439:uncharacterized LOC102723439 [Gene]
- VCL:vinculin [Gene - OMIM - HGNC]
- VDAC2:voltage dependent anion channel 2 [Gene - OMIM - HGNC]
- ZSWIM8:zinc finger SWIM-type containing 8 [Gene - OMIM - HGNC]
- ZNF503:zinc finger protein 503 [Gene - OMIM - HGNC]
- Variant type:
- copy number loss
- Cytogenetic location:
- 10q21.3-22.2
- Genomic location:
- Preferred name:
- GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1
- HGVS:
- NC_000010.11:g.(?_63402579)_(75296099_?)del
- NC_000010.10:g.(?_65162339)_(77055857_?)del
- NC_000010.9:g.(?_64832345)_(76725863_?)del
This HGVS expression did not pass validation- Links:
- dbVar: nssv582601; dbVar: nsv533988
- Observations:
- 1
Condition(s)
- Name:
- See cases [See the Variation display for details]
- Identifiers:
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000176761 | ISCA site 1
| no assertion criteria provided | Pathogenic (Dec 22, 2010) | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | not provided | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.
Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.
PubMed [citation]
- PMID:
- 20466091
- PMCID:
- PMC2869000
Details of each submission
From ISCA site 1, SCV000176761.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | yes | not provided | not provided | Discovery | 1 | not provided | not provided | not provided |
Last Updated: May 7, 2024