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GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 30, 2009
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:
RCV000135405.5

Allele description [Variation Report for GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1]

GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1

Genes:
  • ACCSL:1-aminocyclopropane-1-carboxylate synthase homolog (inactive) like [Gene - HGNC]
  • ACCS:1-aminocyclopropane-1-carboxylate synthase homolog (inactive) [Gene - OMIM - HGNC]
  • ARFGAP2:ADP ribosylation factor GTPase activating protein 2 [Gene - OMIM - HGNC]
  • AGBL2:AGBL carboxypeptidase 2 [Gene - OMIM - HGNC]
  • ALKBH3-AS1:ALKBH3 antisense RNA 1 [Gene - HGNC]
  • ALX4:ALX homeobox 4 [Gene - OMIM - HGNC]
  • LOC130005582:ATAC-STARR-seq lymphoblastoid active region 4639 [Gene]
  • LOC130005583:ATAC-STARR-seq lymphoblastoid active region 4640 [Gene]
  • LOC130005587:ATAC-STARR-seq lymphoblastoid active region 4641 [Gene]
  • LOC130005588:ATAC-STARR-seq lymphoblastoid active region 4642 [Gene]
  • LOC130005589:ATAC-STARR-seq lymphoblastoid active region 4643 [Gene]
  • LOC130005590:ATAC-STARR-seq lymphoblastoid active region 4644 [Gene]
  • LOC130005591:ATAC-STARR-seq lymphoblastoid active region 4645 [Gene]
  • LOC130005592:ATAC-STARR-seq lymphoblastoid active region 4646 [Gene]
  • LOC130005595:ATAC-STARR-seq lymphoblastoid active region 4647 [Gene]
  • LOC130005596:ATAC-STARR-seq lymphoblastoid active region 4648 [Gene]
  • LOC130005597:ATAC-STARR-seq lymphoblastoid active region 4649 [Gene]
  • LOC130005599:ATAC-STARR-seq lymphoblastoid active region 4650 [Gene]
  • LOC130005600:ATAC-STARR-seq lymphoblastoid active region 4651 [Gene]
  • LOC130005601:ATAC-STARR-seq lymphoblastoid active region 4652 [Gene]
  • LOC130005602:ATAC-STARR-seq lymphoblastoid active region 4653 [Gene]
  • LOC130005605:ATAC-STARR-seq lymphoblastoid active region 4654 [Gene]
  • LOC130005606:ATAC-STARR-seq lymphoblastoid active region 4655 [Gene]
  • LOC130005607:ATAC-STARR-seq lymphoblastoid active region 4656 [Gene]
  • LOC130005608:ATAC-STARR-seq lymphoblastoid active region 4657 [Gene]
  • LOC130005609:ATAC-STARR-seq lymphoblastoid active region 4659 [Gene]
  • LOC130005612:ATAC-STARR-seq lymphoblastoid active region 4660 [Gene]
  • LOC130005613:ATAC-STARR-seq lymphoblastoid active region 4661 [Gene]
  • LOC130005615:ATAC-STARR-seq lymphoblastoid active region 4663 [Gene]
  • LOC130005616:ATAC-STARR-seq lymphoblastoid active region 4664 [Gene]
  • LOC130005623:ATAC-STARR-seq lymphoblastoid active region 4665 [Gene]
  • LOC130005626:ATAC-STARR-seq lymphoblastoid active region 4666 [Gene]
  • LOC130005627:ATAC-STARR-seq lymphoblastoid active region 4667 [Gene]
  • LOC130005628:ATAC-STARR-seq lymphoblastoid active region 4668 [Gene]
  • LOC130005629:ATAC-STARR-seq lymphoblastoid active region 4669 [Gene]
  • LOC130005630:ATAC-STARR-seq lymphoblastoid active region 4671 [Gene]
  • LOC130005633:ATAC-STARR-seq lymphoblastoid active region 4673 [Gene]
  • LOC130005634:ATAC-STARR-seq lymphoblastoid active region 4674 [Gene]
  • LOC130005639:ATAC-STARR-seq lymphoblastoid active region 4675 [Gene]
  • LOC130005644:ATAC-STARR-seq lymphoblastoid active region 4676 [Gene]
  • LOC130005646:ATAC-STARR-seq lymphoblastoid active region 4678 [Gene]
  • LOC130005647:ATAC-STARR-seq lymphoblastoid active region 4679 [Gene]
  • LOC130005656:ATAC-STARR-seq lymphoblastoid active region 4681 [Gene]
  • LOC130005657:ATAC-STARR-seq lymphoblastoid active region 4683 [Gene]
  • LOC130005659:ATAC-STARR-seq lymphoblastoid active region 4684 [Gene]
  • LOC130005661:ATAC-STARR-seq lymphoblastoid active region 4685 [Gene]
  • LOC130005665:ATAC-STARR-seq lymphoblastoid active region 4686 [Gene]
  • LOC130005667:ATAC-STARR-seq lymphoblastoid active region 4687 [Gene]
  • LOC130005668:ATAC-STARR-seq lymphoblastoid active region 4688 [Gene]
  • LOC130005670:ATAC-STARR-seq lymphoblastoid active region 4693 [Gene]
  • LOC130005671:ATAC-STARR-seq lymphoblastoid active region 4694 [Gene]
  • LOC130005672:ATAC-STARR-seq lymphoblastoid active region 4695 [Gene]
  • LOC130005674:ATAC-STARR-seq lymphoblastoid active region 4696 [Gene]
  • LOC130005675:ATAC-STARR-seq lymphoblastoid active region 4697 [Gene]
  • LOC130005677:ATAC-STARR-seq lymphoblastoid active region 4699 [Gene]
  • LOC130005681:ATAC-STARR-seq lymphoblastoid active region 4701 [Gene]
  • LOC130005684:ATAC-STARR-seq lymphoblastoid active region 4702 [Gene]
  • LOC130005685:ATAC-STARR-seq lymphoblastoid active region 4704 [Gene]
  • LOC130005686:ATAC-STARR-seq lymphoblastoid active region 4705 [Gene]
  • LOC130005687:ATAC-STARR-seq lymphoblastoid active region 4706 [Gene]
  • LOC130005688:ATAC-STARR-seq lymphoblastoid active region 4707 [Gene]
  • LOC130005689:ATAC-STARR-seq lymphoblastoid active region 4708 [Gene]
  • LOC130005690:ATAC-STARR-seq lymphoblastoid active region 4709 [Gene]
  • LOC130005693:ATAC-STARR-seq lymphoblastoid active region 4711 [Gene]
  • LOC130005694:ATAC-STARR-seq lymphoblastoid active region 4712 [Gene]
  • LOC130005696:ATAC-STARR-seq lymphoblastoid active region 4713 [Gene]
  • LOC130005584:ATAC-STARR-seq lymphoblastoid silent region 3267 [Gene]
  • LOC130005585:ATAC-STARR-seq lymphoblastoid silent region 3268 [Gene]
  • LOC130005586:ATAC-STARR-seq lymphoblastoid silent region 3269 [Gene]
  • LOC130005593:ATAC-STARR-seq lymphoblastoid silent region 3270 [Gene]
  • LOC130005594:ATAC-STARR-seq lymphoblastoid silent region 3271 [Gene]
  • LOC130005598:ATAC-STARR-seq lymphoblastoid silent region 3272 [Gene]
  • LOC130005603:ATAC-STARR-seq lymphoblastoid silent region 3273 [Gene]
  • LOC130005604:ATAC-STARR-seq lymphoblastoid silent region 3274 [Gene]
  • LOC130005610:ATAC-STARR-seq lymphoblastoid silent region 3276 [Gene]
  • LOC130005611:ATAC-STARR-seq lymphoblastoid silent region 3277 [Gene]
  • LOC130005614:ATAC-STARR-seq lymphoblastoid silent region 3279 [Gene]
  • LOC130005617:ATAC-STARR-seq lymphoblastoid silent region 3281 [Gene]
  • LOC130005618:ATAC-STARR-seq lymphoblastoid silent region 3282 [Gene]
  • LOC130005619:ATAC-STARR-seq lymphoblastoid silent region 3283 [Gene]
  • LOC130005620:ATAC-STARR-seq lymphoblastoid silent region 3284 [Gene]
  • LOC130005621:ATAC-STARR-seq lymphoblastoid silent region 3285 [Gene]
  • LOC130005622:ATAC-STARR-seq lymphoblastoid silent region 3286 [Gene]
  • LOC130005624:ATAC-STARR-seq lymphoblastoid silent region 3287 [Gene]
  • LOC130005625:ATAC-STARR-seq lymphoblastoid silent region 3288 [Gene]
  • LOC130005631:ATAC-STARR-seq lymphoblastoid silent region 3290 [Gene]
  • LOC130005632:ATAC-STARR-seq lymphoblastoid silent region 3292 [Gene]
  • LOC130005635:ATAC-STARR-seq lymphoblastoid silent region 3293 [Gene]
  • LOC130005636:ATAC-STARR-seq lymphoblastoid silent region 3294 [Gene]
  • LOC130005637:ATAC-STARR-seq lymphoblastoid silent region 3295 [Gene]
  • LOC130005638:ATAC-STARR-seq lymphoblastoid silent region 3296 [Gene]
  • LOC130005640:ATAC-STARR-seq lymphoblastoid silent region 3297 [Gene]
  • LOC130005641:ATAC-STARR-seq lymphoblastoid silent region 3298 [Gene]
  • LOC130005642:ATAC-STARR-seq lymphoblastoid silent region 3299 [Gene]
  • LOC130005643:ATAC-STARR-seq lymphoblastoid silent region 3301 [Gene]
  • LOC130005645:ATAC-STARR-seq lymphoblastoid silent region 3302 [Gene]
  • LOC130005648:ATAC-STARR-seq lymphoblastoid silent region 3303 [Gene]
  • LOC130005649:ATAC-STARR-seq lymphoblastoid silent region 3306 [Gene]
  • LOC130005650:ATAC-STARR-seq lymphoblastoid silent region 3307 [Gene]
  • LOC130005651:ATAC-STARR-seq lymphoblastoid silent region 3309 [Gene]
  • LOC130005652:ATAC-STARR-seq lymphoblastoid silent region 3310 [Gene]
  • LOC130005653:ATAC-STARR-seq lymphoblastoid silent region 3311 [Gene]
  • LOC130005654:ATAC-STARR-seq lymphoblastoid silent region 3312 [Gene]
  • LOC130005655:ATAC-STARR-seq lymphoblastoid silent region 3313 [Gene]
  • LOC130005658:ATAC-STARR-seq lymphoblastoid silent region 3314 [Gene]
  • LOC130005660:ATAC-STARR-seq lymphoblastoid silent region 3316 [Gene]
  • LOC130005662:ATAC-STARR-seq lymphoblastoid silent region 3317 [Gene]
  • LOC130005663:ATAC-STARR-seq lymphoblastoid silent region 3318 [Gene]
  • LOC130005664:ATAC-STARR-seq lymphoblastoid silent region 3319 [Gene]
  • LOC130005666:ATAC-STARR-seq lymphoblastoid silent region 3320 [Gene]
  • LOC130005669:ATAC-STARR-seq lymphoblastoid silent region 3321 [Gene]
  • LOC130005673:ATAC-STARR-seq lymphoblastoid silent region 3325 [Gene]
  • LOC130005676:ATAC-STARR-seq lymphoblastoid silent region 3327 [Gene]
  • LOC130005678:ATAC-STARR-seq lymphoblastoid silent region 3329 [Gene]
  • LOC130005679:ATAC-STARR-seq lymphoblastoid silent region 3330 [Gene]
  • LOC130005680:ATAC-STARR-seq lymphoblastoid silent region 3331 [Gene]
  • LOC130005682:ATAC-STARR-seq lymphoblastoid silent region 3336 [Gene]
  • LOC130005683:ATAC-STARR-seq lymphoblastoid silent region 3337 [Gene]
  • LOC130005691:ATAC-STARR-seq lymphoblastoid silent region 3339 [Gene]
  • LOC130005692:ATAC-STARR-seq lymphoblastoid silent region 3340 [Gene]
  • LOC130005695:ATAC-STARR-seq lymphoblastoid silent region 3341 [Gene]
  • LOC130005697:ATAC-STARR-seq lymphoblastoid silent region 3342 [Gene]
  • LOC126861200:BRD4-independent group 4 enhancer GRCh37_chr11:43941776-43942975 [Gene]
  • LOC126861203:BRD4-independent group 4 enhancer GRCh37_chr11:45880664-45881863 [Gene]
  • C1QTNF4:C1q and TNF related 4 [Gene - OMIM - HGNC]
  • CD82-AS1:CD82 antisense RNA 1 [Gene - HGNC]
  • CD82:CD82 molecule [Gene - OMIM - HGNC]
  • LOC126861197:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:41775422-41776621 [Gene]
  • LOC126861202:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:44435693-44436892 [Gene]
  • LOC121832791:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:45882374-45883573 [Gene]
  • LOC126861204:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:46390736-46391935 [Gene]
  • LOC116216135:CRISPRi-validated cis-regulatory element chr11.2128 [Gene]
  • LOC116216136:CRISPRi-validated cis-regulatory element chr11.2129 [Gene]
  • CELF1:CUGBP Elav-like family member 1 [Gene - OMIM - HGNC]
  • FREY1:Frey regulator of sperm-oocyte fusion 1 [Gene - HGNC]
  • LOC111464990:GATA motif-containing MPRA enhancer 240 [Gene]
  • LARGE2:LARGE xylosyl- and glucuronyltransferase 2 [Gene - OMIM - HGNC]
  • LRP4:LDL receptor related protein 4 [Gene - OMIM - HGNC]
  • LRP4-AS1:LRP4 antisense RNA 1 [Gene - HGNC]
  • MADD-AS1:MADD antisense RNA 1 [Gene - HGNC]
  • MADD:MAP kinase activating death domain [Gene - OMIM - HGNC]
  • LOC126861198:MED14-independent group 3 enhancer GRCh37_chr11:41999882-42001081 [Gene]
  • LOC126861201:MED14-independent group 3 enhancer GRCh37_chr11:44218806-44220005 [Gene]
  • LOC126861205:MED14-independent group 3 enhancer GRCh37_chr11:47236089-47237288 [Gene]
  • MIR670HG:MIR670 host gene [Gene - HGNC]
  • LOC129390281:MPRA-validated peak1263 silencer [Gene]
  • LOC129390282:MPRA-validated peak1274 silencer [Gene]
  • LOC129390283:MPRA-validated peak1275 silencer [Gene]
  • NDUFS3:NADH:ubiquinone oxidoreductase core subunit S3 [Gene - OMIM - HGNC]
  • LOC132089937:Neanderthal introgressed variant-containing enhancer experimental_21411 [Gene]
  • LOC132090836:Neanderthal introgressed variant-containing enhancer experimental_21423 [Gene]
  • LOC132090837:Neanderthal introgressed variant-containing enhancer experimental_21436 [Gene]
  • LOC132089938:Neanderthal introgressed variant-containing enhancer experimental_21440 [Gene]
  • LOC132089939:Neanderthal introgressed variant-containing enhancer experimental_21441 [Gene]
  • LOC132089940:Neanderthal introgressed variant-containing enhancer experimental_21442 [Gene]
  • LOC132090838:Neanderthal introgressed variant-containing enhancer experimental_21450 [Gene]
  • LOC126861199:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:43852011-43853210 [Gene]
  • LOC112081394:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:44729901-44731100 [Gene]
  • LOC126861206:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:47968069-47969268 [Gene]
  • PHF21A:PHD finger protein 21A [Gene - OMIM - HGNC]
  • PRDM11:PR/SET domain 11 [Gene - OMIM - HGNC]
  • ARHGAP1:Rho GTPase activating protein 1 [Gene - OMIM - HGNC]
  • SLC39A13-AS1:SLC39A13 antisense RNA 1 [Gene - HGNC]
  • LOC112081396:Sharpr-MPRA regulatory region 10000 [Gene]
  • LOC112081395:Sharpr-MPRA regulatory region 11350 [Gene]
  • LOC124433257:Sharpr-MPRA regulatory region 11477 [Gene]
  • LOC121392910:Sharpr-MPRA regulatory region 11965 [Gene]
  • LOC112081399:Sharpr-MPRA regulatory region 12058 [Gene]
  • LOC124433258:Sharpr-MPRA regulatory region 12296 [Gene]
  • LOC121392914:Sharpr-MPRA regulatory region 13015 [Gene]
  • LOC121392913:Sharpr-MPRA regulatory region 14057 [Gene]
  • LOC121392909:Sharpr-MPRA regulatory region 15340 [Gene]
  • LOC121392911:Sharpr-MPRA regulatory region 2100 [Gene]
  • LOC124433254:Sharpr-MPRA regulatory region 2210 [Gene]
  • LOC124433253:Sharpr-MPRA regulatory region 31 [Gene]
  • LOC124433256:Sharpr-MPRA regulatory region 32 [Gene]
  • LOC124433251:Sharpr-MPRA regulatory region 3485 [Gene]
  • LOC112081398:Sharpr-MPRA regulatory region 4641 [Gene]
  • LOC113939922:Sharpr-MPRA regulatory region 5565 [Gene]
  • LOC113939923:Sharpr-MPRA regulatory region 8111 [Gene]
  • LOC112081397:Sharpr-MPRA regulatory region 8215 [Gene]
  • LOC124433249:Sharpr-MPRA regulatory region 8672 [Gene]
  • LOC124433252:Sharpr-MPRA regulatory region 9087 [Gene]
  • LOC124433255:Sharpr-MPRA regulatory region 9650 [Gene]
  • LOC121392912:Sharpr-MPRA regulatory region 9889 [Gene]
  • SPI1:Spi-1 proto-oncogene [Gene - OMIM - HGNC]
  • TSPAN18-AS1:TSPAN18 antisense RNA 1 [Gene - HGNC]
  • LOC110121482:VISTA enhancer hs2090 [Gene]
  • ACP2:acid phosphatase 2, lysosomal [Gene - OMIM - HGNC]
  • ALKBH3:alkB homolog 3, alpha-ketoglutarate dependent dioxygenase [Gene - OMIM - HGNC]
  • API5:apoptosis inhibitor 5 [Gene - OMIM - HGNC]
  • AMBRA1:autophagy and beclin 1 regulator 1 [Gene - OMIM - HGNC]
  • ATG13:autophagy related 13 [Gene - OMIM - HGNC]
  • CREB3L1:cAMP responsive element binding protein 3 like 1 [Gene - OMIM - HGNC]
  • CHST1:carbohydrate sulfotransferase 1 [Gene - OMIM - HGNC]
  • CSTPP1:centriolar satellite-associated tubulin polyglutamylase complex regulator 1 [Gene - OMIM - HGNC]
  • CHRM4:cholinergic receptor muscarinic 4 [Gene - OMIM - HGNC]
  • C11orf96:chromosome 11 open reading frame 96 [Gene - HGNC]
  • F2:coagulation factor II, thrombin [Gene - OMIM - HGNC]
  • CRY2:cryptochrome circadian regulator 2 [Gene - OMIM - HGNC]
  • CKAP5:cytoskeleton associated protein 5 [Gene - OMIM - HGNC]
  • DDB2:damage specific DNA binding protein 2 [Gene - OMIM - HGNC]
  • DGKZ:diacylglycerol kinase zeta [Gene - OMIM - HGNC]
  • EXT2:exostosin glycosyltransferase 2 [Gene - OMIM - HGNC]
  • FAM180B:family with sequence similarity 180 member B [Gene - HGNC]
  • FNBP4:formin binding protein 4 [Gene - OMIM - HGNC]
  • HARBI1:harbinger transposase derived 1 [Gene - OMIM - HGNC]
  • HSD17B12:hydroxysteroid 17-beta dehydrogenase 12 [Gene - OMIM - HGNC]
  • KBTBD4:kelch repeat and BTB domain containing 4 [Gene - OMIM - HGNC]
  • LRRC4C:leucine rich repeat containing 4C [Gene - OMIM - HGNC]
  • LINC01499:long intergenic non-protein coding RNA 1499 [Gene - HGNC]
  • LINC02489:long intergenic non-protein coding RNA 2489 [Gene - HGNC]
  • LINC02685:long intergenic non-protein coding RNA 2685 [Gene - HGNC]
  • LINC02687:long intergenic non-protein coding RNA 2687 [Gene - HGNC]
  • LINC02690:long intergenic non-protein coding RNA 2690 [Gene - HGNC]
  • LINC02696:long intergenic non-protein coding RNA 2696 [Gene - HGNC]
  • LINC02704:long intergenic non-protein coding RNA 2704 [Gene - HGNC]
  • LINC02710:long intergenic non-protein coding RNA 2710 [Gene - HGNC]
  • LINC02716:long intergenic non-protein coding RNA 2716 [Gene - HGNC]
  • LINC02740:long intergenic non-protein coding RNA 2740 [Gene - HGNC]
  • LINC02741:long intergenic non-protein coding RNA 2741 [Gene - HGNC]
  • LINC02745:long intergenic non-protein coding RNA 2745 [Gene - HGNC]
  • MIR129-2:microRNA 129-2 [Gene - HGNC]
  • MIR3160-1:microRNA 3160-1 [Gene - HGNC]
  • MIR3160-2:microRNA 3160-2 [Gene - HGNC]
  • MIR3161:microRNA 3161 [Gene - HGNC]
  • MIR4487:microRNA 4487 [Gene - HGNC]
  • MIR4688:microRNA 4688 [Gene - HGNC]
  • MIR5582:microRNA 5582 [Gene - HGNC]
  • MIR670:microRNA 670 [Gene - HGNC]
  • MIR6745:microRNA 6745 [Gene - HGNC]
  • MIR7154:microRNA 7154 [Gene - HGNC]
  • MDK:midkine [Gene - OMIM - HGNC]
  • MTCH2:mitochondrial carrier 2 [Gene - OMIM - HGNC]
  • MAPK8IP1:mitogen-activated protein kinase 8 interacting protein 1 [Gene - OMIM - HGNC]
  • MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]
  • NR1H3:nuclear receptor subfamily 1 group H member 3 [Gene - OMIM - HGNC]
  • NUP160:nucleoporin 160 [Gene - OMIM - HGNC]
  • OR4A47:olfactory receptor family 4 subfamily A member 47 [Gene - HGNC]
  • OR4B1:olfactory receptor family 4 subfamily B member 1 [Gene - HGNC]
  • OR4C3:olfactory receptor family 4 subfamily C member 3 [Gene - HGNC]
  • OR4C5:olfactory receptor family 4 subfamily C member 5 [Gene - HGNC]
  • OR4S1:olfactory receptor family 4 subfamily S member 1 [Gene - HGNC]
  • OR4X1:olfactory receptor family 4 subfamily X member 1 [Gene - HGNC]
  • OR4X2:olfactory receptor family 4 subfamily X member 2 [Gene - HGNC]
  • PEX16:peroxisomal biogenesis factor 16 [Gene - OMIM - HGNC]
  • PSMC3:proteasome 26S subunit, ATPase 3 [Gene - OMIM - HGNC]
  • PACSIN3:protein kinase C and casein kinase substrate in neurons 3 [Gene - OMIM - HGNC]
  • PTPMT1:protein tyrosine phosphatase mitochondrial 1 [Gene - OMIM - HGNC]
  • PTPRJ:protein tyrosine phosphatase receptor type J [Gene - OMIM - HGNC]
  • RAPSN:receptor associated protein of the synapse [Gene - OMIM - HGNC]
  • SNORD67:small nucleolar RNA, C/D box 67 [Gene - HGNC]
  • SLC35C1:solute carrier family 35 member C1 [Gene - OMIM - HGNC]
  • SLC39A13:solute carrier family 39 member 13 [Gene - OMIM - HGNC]
  • SYT13:synaptotagmin 13 [Gene - OMIM - HGNC]
  • TSPAN18:tetraspanin 18 [Gene - OMIM - HGNC]
  • TTC17:tetratricopeptide repeat domain 17 [Gene - OMIM - HGNC]
  • TP53I11:tumor protein p53 inducible protein 11 [Gene - OMIM - HGNC]
  • LOC100507384:uncharacterized LOC100507384 [Gene]
  • LOC101928894:uncharacterized LOC101928894 [Gene]
  • ZNF408:zinc finger protein 408 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
11p12-11.2
Genomic location:
Preferred name:
GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1
HGVS:
  • NC_000011.10:g.(?_41118322)_(48643003_?)del
  • NC_000011.8:g.(?_41096448)_(48621131_?)del
  • NC_000011.9:g.(?_41139872)_(48664555_?)del
Links:
dbVar: nssv582322; dbVar: nsv529060
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
SCV000175087ISCA site 17

See additional submitters

no assertion criteria provided
Pathogenic
(Jul 30, 2009) 		unknownclinical 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 17, SCV000175087.3

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

Last Updated: Sep 1, 2024