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GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)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 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000142760.4

Allele description

GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1

Genes:
  • AKNAD1:AKNA domain containing 1 [Gene - HGNC]
  • ALX3:ALX homeobox 3 [Gene - OMIM - HGNC]
  • LOC129931063:ATAC-STARR-seq lymphoblastoid active region 1414 [Gene]
  • LOC129931064:ATAC-STARR-seq lymphoblastoid active region 1415 [Gene]
  • LOC129931065:ATAC-STARR-seq lymphoblastoid active region 1416 [Gene]
  • LOC129931066:ATAC-STARR-seq lymphoblastoid active region 1417 [Gene]
  • LOC129931069:ATAC-STARR-seq lymphoblastoid active region 1418 [Gene]
  • LOC129931070:ATAC-STARR-seq lymphoblastoid active region 1419 [Gene]
  • LOC129931072:ATAC-STARR-seq lymphoblastoid active region 1420 [Gene]
  • LOC129931073:ATAC-STARR-seq lymphoblastoid active region 1421 [Gene]
  • LOC129931076:ATAC-STARR-seq lymphoblastoid active region 1423 [Gene]
  • LOC129931077:ATAC-STARR-seq lymphoblastoid active region 1424 [Gene]
  • LOC129931078:ATAC-STARR-seq lymphoblastoid active region 1427 [Gene]
  • LOC129931079:ATAC-STARR-seq lymphoblastoid active region 1428 [Gene]
  • LOC129931080:ATAC-STARR-seq lymphoblastoid active region 1429 [Gene]
  • LOC129931082:ATAC-STARR-seq lymphoblastoid active region 1431 [Gene]
  • LOC129931087:ATAC-STARR-seq lymphoblastoid active region 1433 [Gene]
  • LOC129931088:ATAC-STARR-seq lymphoblastoid active region 1434 [Gene]
  • LOC129931089:ATAC-STARR-seq lymphoblastoid active region 1435 [Gene]
  • LOC129931091:ATAC-STARR-seq lymphoblastoid active region 1436 [Gene]
  • LOC129931093:ATAC-STARR-seq lymphoblastoid active region 1437 [Gene]
  • LOC129931101:ATAC-STARR-seq lymphoblastoid active region 1441 [Gene]
  • LOC129931105:ATAC-STARR-seq lymphoblastoid active region 1442 [Gene]
  • LOC129931106:ATAC-STARR-seq lymphoblastoid active region 1443 [Gene]
  • LOC129931107:ATAC-STARR-seq lymphoblastoid active region 1444 [Gene]
  • LOC129931108:ATAC-STARR-seq lymphoblastoid active region 1445 [Gene]
  • LOC129931109:ATAC-STARR-seq lymphoblastoid active region 1448 [Gene]
  • LOC129931110:ATAC-STARR-seq lymphoblastoid active region 1449 [Gene]
  • LOC129931112:ATAC-STARR-seq lymphoblastoid active region 1450 [Gene]
  • LOC129931113:ATAC-STARR-seq lymphoblastoid active region 1451 [Gene]
  • LOC129931115:ATAC-STARR-seq lymphoblastoid active region 1452 [Gene]
  • LOC129931116:ATAC-STARR-seq lymphoblastoid active region 1453 [Gene]
  • LOC129931117:ATAC-STARR-seq lymphoblastoid active region 1454 [Gene]
  • LOC129931120:ATAC-STARR-seq lymphoblastoid active region 1455 [Gene]
  • LOC129931121:ATAC-STARR-seq lymphoblastoid active region 1456 [Gene]
  • LOC129931122:ATAC-STARR-seq lymphoblastoid active region 1457 [Gene]
  • LOC129931125:ATAC-STARR-seq lymphoblastoid active region 1458 [Gene]
  • LOC129931126:ATAC-STARR-seq lymphoblastoid active region 1459 [Gene]
  • LOC129931127:ATAC-STARR-seq lymphoblastoid active region 1460 [Gene]
  • LOC129931131:ATAC-STARR-seq lymphoblastoid active region 1461 [Gene]
  • LOC129931133:ATAC-STARR-seq lymphoblastoid active region 1462 [Gene]
  • LOC129931137:ATAC-STARR-seq lymphoblastoid active region 1463 [Gene]
  • LOC129931139:ATAC-STARR-seq lymphoblastoid active region 1464 [Gene]
  • LOC129931140:ATAC-STARR-seq lymphoblastoid active region 1465 [Gene]
  • LOC129931141:ATAC-STARR-seq lymphoblastoid active region 1466 [Gene]
  • LOC129931142:ATAC-STARR-seq lymphoblastoid active region 1467 [Gene]
  • LOC129931144:ATAC-STARR-seq lymphoblastoid active region 1468 [Gene]
  • LOC129931145:ATAC-STARR-seq lymphoblastoid active region 1471 [Gene]
  • LOC129931148:ATAC-STARR-seq lymphoblastoid active region 1472 [Gene]
  • LOC129931149:ATAC-STARR-seq lymphoblastoid active region 1473 [Gene]
  • LOC129931150:ATAC-STARR-seq lymphoblastoid active region 1474 [Gene]
  • LOC129931155:ATAC-STARR-seq lymphoblastoid active region 1475 [Gene]
  • LOC129931156:ATAC-STARR-seq lymphoblastoid active region 1476 [Gene]
  • LOC129931157:ATAC-STARR-seq lymphoblastoid active region 1477 [Gene]
  • LOC129931158:ATAC-STARR-seq lymphoblastoid active region 1478 [Gene]
  • LOC129931159:ATAC-STARR-seq lymphoblastoid active region 1480 [Gene]
  • LOC129931160:ATAC-STARR-seq lymphoblastoid active region 1481 [Gene]
  • LOC129931162:ATAC-STARR-seq lymphoblastoid active region 1482 [Gene]
  • LOC129931164:ATAC-STARR-seq lymphoblastoid active region 1483 [Gene]
  • LOC129931165:ATAC-STARR-seq lymphoblastoid active region 1484 [Gene]
  • LOC129931167:ATAC-STARR-seq lymphoblastoid active region 1486 [Gene]
  • LOC129931168:ATAC-STARR-seq lymphoblastoid active region 1487 [Gene]
  • LOC129931169:ATAC-STARR-seq lymphoblastoid active region 1488 [Gene]
  • LOC129931170:ATAC-STARR-seq lymphoblastoid active region 1489 [Gene]
  • LOC129931171:ATAC-STARR-seq lymphoblastoid active region 1490 [Gene]
  • LOC129931172:ATAC-STARR-seq lymphoblastoid active region 1491 [Gene]
  • LOC129931173:ATAC-STARR-seq lymphoblastoid active region 1492 [Gene]
  • LOC129931174:ATAC-STARR-seq lymphoblastoid active region 1493 [Gene]
  • LOC129931175:ATAC-STARR-seq lymphoblastoid active region 1494 [Gene]
  • LOC129931177:ATAC-STARR-seq lymphoblastoid active region 1495 [Gene]
  • LOC129931178:ATAC-STARR-seq lymphoblastoid active region 1496 [Gene]
  • LOC129931179:ATAC-STARR-seq lymphoblastoid active region 1497 [Gene]
  • LOC129931180:ATAC-STARR-seq lymphoblastoid active region 1498 [Gene]
  • LOC129931181:ATAC-STARR-seq lymphoblastoid active region 1499 [Gene]
  • LOC129931182:ATAC-STARR-seq lymphoblastoid active region 1500 [Gene]
  • LOC129931183:ATAC-STARR-seq lymphoblastoid active region 1501 [Gene]
  • LOC129931185:ATAC-STARR-seq lymphoblastoid active region 1502 [Gene]
  • LOC129931186:ATAC-STARR-seq lymphoblastoid active region 1503 [Gene]
  • LOC129931187:ATAC-STARR-seq lymphoblastoid active region 1504 [Gene]
  • LOC129931188:ATAC-STARR-seq lymphoblastoid active region 1505 [Gene]
  • LOC129931189:ATAC-STARR-seq lymphoblastoid active region 1506 [Gene]
  • LOC129931197:ATAC-STARR-seq lymphoblastoid active region 1507 [Gene]
  • LOC129931198:ATAC-STARR-seq lymphoblastoid active region 1508 [Gene]
  • LOC129931199:ATAC-STARR-seq lymphoblastoid active region 1509 [Gene]
  • LOC129931200:ATAC-STARR-seq lymphoblastoid active region 1510 [Gene]
  • LOC129931067:ATAC-STARR-seq lymphoblastoid silent region 1130 [Gene]
  • LOC129931068:ATAC-STARR-seq lymphoblastoid silent region 1131 [Gene]
  • LOC129931071:ATAC-STARR-seq lymphoblastoid silent region 1132 [Gene]
  • LOC129931074:ATAC-STARR-seq lymphoblastoid silent region 1134 [Gene]
  • LOC129931075:ATAC-STARR-seq lymphoblastoid silent region 1135 [Gene]
  • LOC129931081:ATAC-STARR-seq lymphoblastoid silent region 1137 [Gene]
  • LOC129931083:ATAC-STARR-seq lymphoblastoid silent region 1138 [Gene]
  • LOC129931084:ATAC-STARR-seq lymphoblastoid silent region 1139 [Gene]
  • LOC129931085:ATAC-STARR-seq lymphoblastoid silent region 1140 [Gene]
  • LOC129931086:ATAC-STARR-seq lymphoblastoid silent region 1141 [Gene]
  • LOC129931090:ATAC-STARR-seq lymphoblastoid silent region 1142 [Gene]
  • LOC129931092:ATAC-STARR-seq lymphoblastoid silent region 1143 [Gene]
  • LOC129931094:ATAC-STARR-seq lymphoblastoid silent region 1144 [Gene]
  • LOC129931095:ATAC-STARR-seq lymphoblastoid silent region 1145 [Gene]
  • LOC129931096:ATAC-STARR-seq lymphoblastoid silent region 1147 [Gene]
  • LOC129931097:ATAC-STARR-seq lymphoblastoid silent region 1148 [Gene]
  • LOC129931098:ATAC-STARR-seq lymphoblastoid silent region 1149 [Gene]
  • LOC129931099:ATAC-STARR-seq lymphoblastoid silent region 1151 [Gene]
  • LOC129931100:ATAC-STARR-seq lymphoblastoid silent region 1152 [Gene]
  • LOC129931102:ATAC-STARR-seq lymphoblastoid silent region 1153 [Gene]
  • LOC129931103:ATAC-STARR-seq lymphoblastoid silent region 1154 [Gene]
  • LOC129931104:ATAC-STARR-seq lymphoblastoid silent region 1155 [Gene]
  • LOC129931111:ATAC-STARR-seq lymphoblastoid silent region 1157 [Gene]
  • LOC129931114:ATAC-STARR-seq lymphoblastoid silent region 1158 [Gene]
  • LOC129931118:ATAC-STARR-seq lymphoblastoid silent region 1159 [Gene]
  • LOC129931119:ATAC-STARR-seq lymphoblastoid silent region 1160 [Gene]
  • LOC129931123:ATAC-STARR-seq lymphoblastoid silent region 1163 [Gene]
  • LOC129931124:ATAC-STARR-seq lymphoblastoid silent region 1164 [Gene]
  • LOC129931128:ATAC-STARR-seq lymphoblastoid silent region 1165 [Gene]
  • LOC129931129:ATAC-STARR-seq lymphoblastoid silent region 1166 [Gene]
  • LOC129931130:ATAC-STARR-seq lymphoblastoid silent region 1167 [Gene]
  • LOC129931132:ATAC-STARR-seq lymphoblastoid silent region 1168 [Gene]
  • LOC129931134:ATAC-STARR-seq lymphoblastoid silent region 1169 [Gene]
  • LOC129931135:ATAC-STARR-seq lymphoblastoid silent region 1170 [Gene]
  • LOC129931136:ATAC-STARR-seq lymphoblastoid silent region 1171 [Gene]
  • LOC129931138:ATAC-STARR-seq lymphoblastoid silent region 1172 [Gene]
  • LOC129931143:ATAC-STARR-seq lymphoblastoid silent region 1173 [Gene]
  • LOC129931146:ATAC-STARR-seq lymphoblastoid silent region 1174 [Gene]
  • LOC129931147:ATAC-STARR-seq lymphoblastoid silent region 1175 [Gene]
  • LOC129931151:ATAC-STARR-seq lymphoblastoid silent region 1176 [Gene]
  • LOC129931152:ATAC-STARR-seq lymphoblastoid silent region 1177 [Gene]
  • LOC129931153:ATAC-STARR-seq lymphoblastoid silent region 1178 [Gene]
  • LOC129931154:ATAC-STARR-seq lymphoblastoid silent region 1179 [Gene]
  • LOC129931161:ATAC-STARR-seq lymphoblastoid silent region 1180 [Gene]
  • LOC129931163:ATAC-STARR-seq lymphoblastoid silent region 1181 [Gene]
  • LOC129931166:ATAC-STARR-seq lymphoblastoid silent region 1182 [Gene]
  • LOC129931176:ATAC-STARR-seq lymphoblastoid silent region 1183 [Gene]
  • LOC129931184:ATAC-STARR-seq lymphoblastoid silent region 1184 [Gene]
  • LOC129931190:ATAC-STARR-seq lymphoblastoid silent region 1186 [Gene]
  • LOC129931191:ATAC-STARR-seq lymphoblastoid silent region 1187 [Gene]
  • LOC129931192:ATAC-STARR-seq lymphoblastoid silent region 1188 [Gene]
  • LOC129931193:ATAC-STARR-seq lymphoblastoid silent region 1189 [Gene]
  • LOC129931194:ATAC-STARR-seq lymphoblastoid silent region 1190 [Gene]
  • LOC129931195:ATAC-STARR-seq lymphoblastoid silent region 1191 [Gene]
  • LOC129931196:ATAC-STARR-seq lymphoblastoid silent region 1192 [Gene]
  • ATP5PB:ATP synthase peripheral stalk-membrane subunit b [Gene - OMIM - HGNC]
  • LOC126805817:BRD4-independent group 4 enhancer GRCh37_chr1:106455803-106457002 [Gene]
  • LOC126805818:BRD4-independent group 4 enhancer GRCh37_chr1:107707080-107708279 [Gene]
  • LOC126805819:BRD4-independent group 4 enhancer GRCh37_chr1:108649881-108651080 [Gene]
  • LOC126805822:BRD4-independent group 4 enhancer GRCh37_chr1:110170748-110171947 [Gene]
  • LOC126805823:BRD4-independent group 4 enhancer GRCh37_chr1:110293035-110294234 [Gene]
  • LOC126805824:BRD4-independent group 4 enhancer GRCh37_chr1:110560640-110561839 [Gene]
  • CD53:CD53 molecule [Gene - OMIM - HGNC]
  • LOC126805820:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:109739959-109741158 [Gene]
  • LOC126805821:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:109779623-109780822 [Gene]
  • LOC126805826:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:111729927-111731126 [Gene]
  • LOC126805828:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:111777146-111778345 [Gene]
  • LOC115801437:CRISPRi-validated cis-regulatory element chr1.7484 [Gene]
  • LOC115801438:CRISPRi-validated cis-regulatory element chr1.7635 [Gene]
  • CYMP-AS1:CYMP antisense RNA 1 [Gene - HGNC]
  • DDX20:DEAD-box helicase 20 [Gene - OMIM - HGNC]
  • DENND2D:DENN domain containing 2D [Gene - OMIM - HGNC]
  • DRAM2:DNA damage regulated autophagy modulator 2 [Gene - OMIM - HGNC]
  • EEIG2:EEIG family member 2 [Gene - HGNC]
  • EPS8L3:EPS8 like 3 [Gene - OMIM - HGNC]
  • GPSM2:G protein signaling modulator 2 [Gene - OMIM - HGNC]
  • GNAI3:G protein subunit alpha i3 [Gene - OMIM - HGNC]
  • GNAT2:G protein subunit alpha transducin 2 [Gene - OMIM - HGNC]
  • GPR61:G protein-coupled receptor 61 [Gene - OMIM - HGNC]
  • LOC122094896:H3K4me1 hESC enhancers GRCh37_chr1:111019910-111020410 and GRCh37_chr1:111020411-111020911 [Gene]
  • HENMT1:HEN methyltransferase 1 [Gene - OMIM - HGNC]
  • INKA2-AS1:INKA2 antisense RNA 1 [Gene - HGNC]
  • KCNC4-DT:KCNC4 divergent transcript [Gene - HGNC]
  • KCND3-AS1:KCND3 antisense RNA 1 [Gene - HGNC]
  • KCND3-IT1:KCND3 intronic transcript 1 [Gene - HGNC]
  • LAMTOR5-AS1:LAMTOR5 and SLC16A4 antisense RNA 1 [Gene - HGNC]
  • LOC126805825:MED14-independent group 3 enhancer GRCh37_chr1:111644109-111645308 [Gene]
  • LOC126805827:MED14-independent group 3 enhancer GRCh37_chr1:111756584-111757783 [Gene]
  • LOC126805829:MED14-independent group 3 enhancer GRCh37_chr1:111906935-111908134 [Gene]
  • LOC129388572:MPRA-validated peak351 silencer [Gene]
  • LOC129388573:MPRA-validated peak353 silencer [Gene]
  • LOC129388574:MPRA-validated peak354 silencer [Gene]
  • LOC129388575:MPRA-validated peak355 silencer [Gene]
  • LOC129388576:MPRA-validated peak356 silencer [Gene]
  • LOC129388577:MPRA-validated peak357 silencer [Gene]
  • LOC129388578:MPRA-validated peak362 silencer [Gene]
  • LOC129388579:MPRA-validated peak363 silencer [Gene]
  • LOC129388580:MPRA-validated peak364 silencer [Gene]
  • LOC129388581:MPRA-validated peak365 silencer [Gene]
  • LOC129388582:MPRA-validated peak366 silencer [Gene]
  • NBPF4:NBPF member 4 [Gene - OMIM - HGNC]
  • NBPF6:NBPF member 6 [Gene - OMIM - HGNC]
  • RAP1A:RAP1A, member of RAS oncogene family [Gene - OMIM - HGNC]
  • RBM15-AS1:RBM15 antisense RNA 1 [Gene - HGNC]
  • RBM15:RNA binding motif protein 15 [Gene - OMIM - HGNC]
  • SLC6A17-AS1:SLC6A17 antisense RNA 1 [Gene - HGNC]
  • LOC112577473:Sharpr-MPRA regulatory region 10752 [Gene]
  • LOC112577475:Sharpr-MPRA regulatory region 11911 [Gene]
  • LOC122094893:Sharpr-MPRA regulatory region 12007 [Gene]
  • LOC121725043:Sharpr-MPRA regulatory region 12342 [Gene]
  • LOC122094891:Sharpr-MPRA regulatory region 12963 [Gene]
  • LOC120893149:Sharpr-MPRA regulatory region 13935 [Gene]
  • LOC120893151:Sharpr-MPRA regulatory region 1493 [Gene]
  • LOC122094895:Sharpr-MPRA regulatory region 1498 [Gene]
  • LOC112577476:Sharpr-MPRA regulatory region 155 [Gene]
  • LOC120893150:Sharpr-MPRA regulatory region 3357 [Gene]
  • LOC122094897:Sharpr-MPRA regulatory region 4566 [Gene]
  • LOC112577471:Sharpr-MPRA regulatory region 472 [Gene]
  • LOC112577470:Sharpr-MPRA regulatory region 7876 [Gene]
  • LOC122094892:Sharpr-MPRA regulatory region 7966 [Gene]
  • LOC122094894:Sharpr-MPRA regulatory region 8825 [Gene]
  • LOC120893152:Sharpr-MPRA regulatory region 9477 [Gene]
  • LOC121725044:Sharpr-MPRA regulatory region 9728 [Gene]
  • TAF13:TATA-box binding protein associated factor 13 [Gene - OMIM - HGNC]
  • VAV3-AS1:VAV3 antisense RNA 1 [Gene - HGNC]
  • LOC110121283:VISTA enhancer hs2216 [Gene]
  • LOC110121285:VISTA enhancer hs2263 [Gene]
  • WDR47:WD repeat domain 47 [Gene - OMIM - HGNC]
  • WDR77:WD repeat domain 77 [Gene - OMIM - HGNC]
  • ADORA3:adenosine A3 receptor [Gene - OMIM - HGNC]
  • AMPD2:adenosine monophosphate deaminase 2 [Gene - OMIM - HGNC]
  • AHCYL1:adenosylhomocysteinase like 1 [Gene - OMIM - HGNC]
  • AMIGO1:adhesion molecule with Ig like domain 1 [Gene - OMIM - HGNC]
  • ATXN7L2:ataxin 7 like 2 [Gene - HGNC]
  • CELSR2:cadherin EGF LAG seven-pass G-type receptor 2 [Gene - OMIM - HGNC]
  • CHI3L2:chitinase 3 like 2 [Gene - OMIM - HGNC]
  • CHIA:chitinase acidic [Gene - OMIM - HGNC]
  • CLCC1:chloride channel CLIC like 1 [Gene - OMIM - HGNC]
  • CEPT1:choline/ethanolamine phosphotransferase 1 [Gene - OMIM - HGNC]
  • C1orf162:chromosome 1 open reading frame 162 [Gene - HGNC]
  • CFAP276:cilia and flagella associated protein 276 [Gene - OMIM - HGNC]
  • CIMAP3:ciliary microtubule associated protein 3 [Gene - OMIM - HGNC]
  • CSF1:colony stimulating factor 1 [Gene - OMIM - HGNC]
  • CYB561D1:cytochrome b561 family member D1 [Gene - HGNC]
  • ELAPOR1:endosome-lysosome associated apoptosis and autophagy regulator 1 [Gene - OMIM - HGNC]
  • FNDC7:fibronectin type III domain containing 7 [Gene - HGNC]
  • GSTM1:glutathione S-transferase mu 1 [Gene - OMIM - HGNC]
  • GSTM2:glutathione S-transferase mu 2 [Gene - OMIM - HGNC]
  • GSTM3:glutathione S-transferase mu 3 [Gene - OMIM - HGNC]
  • GSTM4:glutathione S-transferase mu 4 [Gene - OMIM - HGNC]
  • GSTM5:glutathione S-transferase mu 5 [Gene - OMIM - HGNC]
  • INKA2:inka box actin regulator 2 [Gene - OMIM - HGNC]
  • LAMTOR5:late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 [Gene - OMIM - HGNC]
  • LRIF1:ligand dependent nuclear receptor interacting factor 1 [Gene - OMIM - HGNC]
  • LINC01160:long intergenic non-protein coding RNA 1160 [Gene - HGNC]
  • LINC01397:long intergenic non-protein coding RNA 1397 [Gene - HGNC]
  • LINC01661:long intergenic non-protein coding RNA 1661 [Gene - HGNC]
  • LINC01676:long intergenic non-protein coding RNA 1676 [Gene - HGNC]
  • LINC01677:long intergenic non-protein coding RNA 1677 [Gene - HGNC]
  • LINC01750:long intergenic non-protein coding RNA 1750 [Gene - HGNC]
  • MIR197:microRNA 197 [Gene - OMIM - HGNC]
  • MIR7852:microRNA 7852 [Gene - HGNC]
  • MYBPHL:myosin binding protein H like [Gene - OMIM - HGNC]
  • NTNG1:netrin G1 [Gene - OMIM - HGNC]
  • OVGP1:oviductal glycoprotein 1 [Gene - OMIM - HGNC]
  • KCNA10:potassium voltage-gated channel subfamily A member 10 [Gene - OMIM - HGNC]
  • KCNA2:potassium voltage-gated channel subfamily A member 2 [Gene - OMIM - HGNC]
  • KCNA3:potassium voltage-gated channel subfamily A member 3 [Gene - OMIM - HGNC]
  • KCNC4:potassium voltage-gated channel subfamily C member 4 [Gene - OMIM - HGNC]
  • KCND3:potassium voltage-gated channel subfamily D member 3 [Gene - OMIM - HGNC]
  • PRPF38B:pre-mRNA processing factor 38B [Gene - HGNC]
  • PROK1:prokineticin 1 [Gene - OMIM - HGNC]
  • PSRC1:proline and serine rich coiled-coil 1 [Gene - OMIM - HGNC]
  • PSMA5:proteasome 20S subunit alpha 5 [Gene - OMIM - HGNC]
  • PRMT6:protein arginine methyltransferase 6 [Gene - OMIM - HGNC]
  • SARS1:seryl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • SCARNA2:small Cajal body-specific RNA 2 [Gene - HGNC]
  • SLC16A4:solute carrier family 16 member 4 [Gene - OMIM - HGNC]
  • SLC25A24:solute carrier family 25 member 24 [Gene - OMIM - HGNC]
  • SLC6A17:solute carrier family 6 member 17 [Gene - OMIM - HGNC]
  • SORT1:sortilin 1 [Gene - OMIM - HGNC]
  • SPATA42:spermatogenesis associated 42 [Gene - HGNC]
  • STRIP1:striatin interacting protein 1 [Gene - OMIM - HGNC]
  • SYPL2:synaptophysin like 2 [Gene - HGNC]
  • STXBP3:syntaxin binding protein 3 [Gene - OMIM - HGNC]
  • TMIGD3:transmembrane and immunoglobulin domain containing 3 [Gene - HGNC]
  • TMEM167B:transmembrane protein 167B [Gene - HGNC]
  • UBL4B:ubiquitin like 4B [Gene - OMIM - HGNC]
  • LOC101928718:uncharacterized LOC101928718 [Gene]
  • LOC107985184:uncharacterized LOC107985184 [Gene]
  • VAV3:vav guanine nucleotide exchange factor 3 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1p21.1-13.2
Genomic location:
Preferred name:
GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1
HGVS:
  • NC_000001.11:g.(?_105468292)_(112190626_?)del
  • NC_000001.10:g.(?_106010914)_(112733248_?)del
  • NC_000001.9:g.(?_105812437)_(112534771_?)del
Links:
dbVar: nssv582467; dbVar: nsv534494
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000177271ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 22, 2010) 		not providedclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

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, SCV000177271.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023