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GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 30, 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:
RCV000135295.4

Allele description [Variation Report for GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1]

GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1

Genes:
  • LOC108178983:11p14.2 distal LINE-mediated recombination region [Gene]
  • LOC108178984:11p14.2 proximal LINE-mediated recombination region [Gene]
  • ARL14EP:ADP ribosylation factor like GTPase 14 effector protein [Gene - OMIM - HGNC]
  • APIP:APAF1 interacting protein [Gene - OMIM - HGNC]
  • ARL14EP-DT:ARL14EP divergent transcript [Gene - HGNC]
  • LOC130005451:ATAC-STARR-seq lymphoblastoid active region 4541 [Gene]
  • LOC130005452:ATAC-STARR-seq lymphoblastoid active region 4542 [Gene]
  • LOC130005453:ATAC-STARR-seq lymphoblastoid active region 4543 [Gene]
  • LOC130005457:ATAC-STARR-seq lymphoblastoid active region 4546 [Gene]
  • LOC130005458:ATAC-STARR-seq lymphoblastoid active region 4547 [Gene]
  • LOC130005459:ATAC-STARR-seq lymphoblastoid active region 4549 [Gene]
  • LOC130005461:ATAC-STARR-seq lymphoblastoid active region 4551 [Gene]
  • LOC130005462:ATAC-STARR-seq lymphoblastoid active region 4552 [Gene]
  • LOC130005463:ATAC-STARR-seq lymphoblastoid active region 4553 [Gene]
  • LOC130005464:ATAC-STARR-seq lymphoblastoid active region 4554 [Gene]
  • LOC130005470:ATAC-STARR-seq lymphoblastoid active region 4556 [Gene]
  • LOC130005471:ATAC-STARR-seq lymphoblastoid active region 4558 [Gene]
  • LOC130005473:ATAC-STARR-seq lymphoblastoid active region 4559 [Gene]
  • LOC130005474:ATAC-STARR-seq lymphoblastoid active region 4560 [Gene]
  • LOC130005475:ATAC-STARR-seq lymphoblastoid active region 4561 [Gene]
  • LOC130005477:ATAC-STARR-seq lymphoblastoid active region 4562 [Gene]
  • LOC130005478:ATAC-STARR-seq lymphoblastoid active region 4563 [Gene]
  • LOC130005480:ATAC-STARR-seq lymphoblastoid active region 4564 [Gene]
  • LOC130005485:ATAC-STARR-seq lymphoblastoid active region 4566 [Gene]
  • LOC130005486:ATAC-STARR-seq lymphoblastoid active region 4567 [Gene]
  • LOC130005489:ATAC-STARR-seq lymphoblastoid active region 4568 [Gene]
  • LOC130005490:ATAC-STARR-seq lymphoblastoid active region 4569 [Gene]
  • LOC130005491:ATAC-STARR-seq lymphoblastoid active region 4570 [Gene]
  • LOC130005495:ATAC-STARR-seq lymphoblastoid active region 4572 [Gene]
  • LOC130005496:ATAC-STARR-seq lymphoblastoid active region 4574 [Gene]
  • LOC130005500:ATAC-STARR-seq lymphoblastoid active region 4575 [Gene]
  • LOC130005501:ATAC-STARR-seq lymphoblastoid active region 4576 [Gene]
  • LOC130005506:ATAC-STARR-seq lymphoblastoid active region 4577 [Gene]
  • LOC130005507:ATAC-STARR-seq lymphoblastoid active region 4578 [Gene]
  • LOC130005508:ATAC-STARR-seq lymphoblastoid active region 4579 [Gene]
  • LOC130005509:ATAC-STARR-seq lymphoblastoid active region 4580 [Gene]
  • LOC130005510:ATAC-STARR-seq lymphoblastoid active region 4581 [Gene]
  • LOC130005511:ATAC-STARR-seq lymphoblastoid active region 4582 [Gene]
  • LOC130005514:ATAC-STARR-seq lymphoblastoid active region 4583 [Gene]
  • LOC130005515:ATAC-STARR-seq lymphoblastoid active region 4584 [Gene]
  • LOC130005517:ATAC-STARR-seq lymphoblastoid active region 4585 [Gene]
  • LOC130005524:ATAC-STARR-seq lymphoblastoid active region 4586 [Gene]
  • LOC130005525:ATAC-STARR-seq lymphoblastoid active region 4587 [Gene]
  • LOC130005527:ATAC-STARR-seq lymphoblastoid active region 4588 [Gene]
  • LOC130005528:ATAC-STARR-seq lymphoblastoid active region 4589 [Gene]
  • LOC130005529:ATAC-STARR-seq lymphoblastoid active region 4590 [Gene]
  • LOC130005530:ATAC-STARR-seq lymphoblastoid active region 4591 [Gene]
  • LOC130005531:ATAC-STARR-seq lymphoblastoid active region 4592 [Gene]
  • LOC130005532:ATAC-STARR-seq lymphoblastoid active region 4593 [Gene]
  • LOC130005533:ATAC-STARR-seq lymphoblastoid active region 4594 [Gene]
  • LOC130005534:ATAC-STARR-seq lymphoblastoid active region 4595 [Gene]
  • LOC130005535:ATAC-STARR-seq lymphoblastoid active region 4596 [Gene]
  • LOC130005536:ATAC-STARR-seq lymphoblastoid active region 4597 [Gene]
  • LOC130005537:ATAC-STARR-seq lymphoblastoid active region 4598 [Gene]
  • LOC130005538:ATAC-STARR-seq lymphoblastoid active region 4600 [Gene]
  • LOC130005539:ATAC-STARR-seq lymphoblastoid active region 4601 [Gene]
  • LOC130005540:ATAC-STARR-seq lymphoblastoid active region 4602 [Gene]
  • LOC130005542:ATAC-STARR-seq lymphoblastoid active region 4603 [Gene]
  • LOC130005543:ATAC-STARR-seq lymphoblastoid active region 4604 [Gene]
  • LOC130005544:ATAC-STARR-seq lymphoblastoid active region 4605 [Gene]
  • LOC130005545:ATAC-STARR-seq lymphoblastoid active region 4606 [Gene]
  • LOC130005549:ATAC-STARR-seq lymphoblastoid active region 4608 [Gene]
  • LOC130005550:ATAC-STARR-seq lymphoblastoid active region 4609 [Gene]
  • LOC130005551:ATAC-STARR-seq lymphoblastoid active region 4611 [Gene]
  • LOC130005552:ATAC-STARR-seq lymphoblastoid active region 4612 [Gene]
  • LOC130005553:ATAC-STARR-seq lymphoblastoid active region 4613 [Gene]
  • LOC130005554:ATAC-STARR-seq lymphoblastoid active region 4614 [Gene]
  • LOC130005555:ATAC-STARR-seq lymphoblastoid active region 4615 [Gene]
  • LOC130005556:ATAC-STARR-seq lymphoblastoid active region 4616 [Gene]
  • LOC130005557:ATAC-STARR-seq lymphoblastoid active region 4617 [Gene]
  • LOC130005559:ATAC-STARR-seq lymphoblastoid active region 4618 [Gene]
  • LOC130005561:ATAC-STARR-seq lymphoblastoid active region 4619 [Gene]
  • LOC130005562:ATAC-STARR-seq lymphoblastoid active region 4620 [Gene]
  • LOC130005563:ATAC-STARR-seq lymphoblastoid active region 4621 [Gene]
  • LOC130005454:ATAC-STARR-seq lymphoblastoid silent region 3209 [Gene]
  • LOC130005455:ATAC-STARR-seq lymphoblastoid silent region 3210 [Gene]
  • LOC130005456:ATAC-STARR-seq lymphoblastoid silent region 3211 [Gene]
  • LOC130005460:ATAC-STARR-seq lymphoblastoid silent region 3212 [Gene]
  • LOC130005465:ATAC-STARR-seq lymphoblastoid silent region 3213 [Gene]
  • LOC130005466:ATAC-STARR-seq lymphoblastoid silent region 3214 [Gene]
  • LOC130005467:ATAC-STARR-seq lymphoblastoid silent region 3216 [Gene]
  • LOC130005468:ATAC-STARR-seq lymphoblastoid silent region 3217 [Gene]
  • LOC130005469:ATAC-STARR-seq lymphoblastoid silent region 3218 [Gene]
  • LOC130005472:ATAC-STARR-seq lymphoblastoid silent region 3219 [Gene]
  • LOC130005476:ATAC-STARR-seq lymphoblastoid silent region 3220 [Gene]
  • LOC130005479:ATAC-STARR-seq lymphoblastoid silent region 3221 [Gene]
  • LOC130005481:ATAC-STARR-seq lymphoblastoid silent region 3223 [Gene]
  • LOC130005482:ATAC-STARR-seq lymphoblastoid silent region 3224 [Gene]
  • LOC130005483:ATAC-STARR-seq lymphoblastoid silent region 3225 [Gene]
  • LOC130005484:ATAC-STARR-seq lymphoblastoid silent region 3226 [Gene]
  • LOC130005487:ATAC-STARR-seq lymphoblastoid silent region 3227 [Gene]
  • LOC130005488:ATAC-STARR-seq lymphoblastoid silent region 3228 [Gene]
  • LOC130005492:ATAC-STARR-seq lymphoblastoid silent region 3229 [Gene]
  • LOC130005493:ATAC-STARR-seq lymphoblastoid silent region 3230 [Gene]
  • LOC130005494:ATAC-STARR-seq lymphoblastoid silent region 3231 [Gene]
  • LOC130005497:ATAC-STARR-seq lymphoblastoid silent region 3232 [Gene]
  • LOC130005498:ATAC-STARR-seq lymphoblastoid silent region 3233 [Gene]
  • LOC130005499:ATAC-STARR-seq lymphoblastoid silent region 3234 [Gene]
  • LOC130005502:ATAC-STARR-seq lymphoblastoid silent region 3235 [Gene]
  • LOC130005503:ATAC-STARR-seq lymphoblastoid silent region 3236 [Gene]
  • LOC130005504:ATAC-STARR-seq lymphoblastoid silent region 3237 [Gene]
  • LOC130005505:ATAC-STARR-seq lymphoblastoid silent region 3238 [Gene]
  • LOC130005512:ATAC-STARR-seq lymphoblastoid silent region 3239 [Gene]
  • LOC130005513:ATAC-STARR-seq lymphoblastoid silent region 3240 [Gene]
  • LOC130005516:ATAC-STARR-seq lymphoblastoid silent region 3241 [Gene]
  • LOC130005518:ATAC-STARR-seq lymphoblastoid silent region 3243 [Gene]
  • LOC130005519:ATAC-STARR-seq lymphoblastoid silent region 3244 [Gene]
  • LOC130005520:ATAC-STARR-seq lymphoblastoid silent region 3245 [Gene]
  • LOC130005521:ATAC-STARR-seq lymphoblastoid silent region 3246 [Gene]
  • LOC130005522:ATAC-STARR-seq lymphoblastoid silent region 3247 [Gene]
  • LOC130005523:ATAC-STARR-seq lymphoblastoid silent region 3248 [Gene]
  • LOC130005526:ATAC-STARR-seq lymphoblastoid silent region 3250 [Gene]
  • LOC130005541:ATAC-STARR-seq lymphoblastoid silent region 3251 [Gene]
  • LOC130005546:ATAC-STARR-seq lymphoblastoid silent region 3252 [Gene]
  • LOC130005547:ATAC-STARR-seq lymphoblastoid silent region 3253 [Gene]
  • LOC130005548:ATAC-STARR-seq lymphoblastoid silent region 3254 [Gene]
  • LOC130005558:ATAC-STARR-seq lymphoblastoid silent region 3256 [Gene]
  • LOC130005560:ATAC-STARR-seq lymphoblastoid silent region 3257 [Gene]
  • BBOX1-AS1:BBOX1 antisense RNA 1 [Gene - HGNC]
  • BDNF-AS:BDNF antisense RNA [Gene - OMIM - HGNC]
  • LOC126861169:BRD4-independent group 4 enhancer GRCh37_chr11:26707661-26708860 [Gene]
  • LOC126861174:BRD4-independent group 4 enhancer GRCh37_chr11:30218865-30220064 [Gene]
  • LOC126861176:BRD4-independent group 4 enhancer GRCh37_chr11:31800787-31801986 [Gene]
  • LOC126861182:BRD4-independent group 4 enhancer GRCh37_chr11:34701712-34702911 [Gene]
  • CD44-AS1:CD44 antisense RNA 1 [Gene - HGNC]
  • CD44-DT:CD44 divergent transcript [Gene - HGNC]
  • CD44:CD44 molecule (Indian blood group) [Gene - OMIM - HGNC]
  • CD59:CD59 molecule (CD59 blood group) [Gene - OMIM - HGNC]
  • LOC126861170:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:27340270-27341469 [Gene]
  • LOC126861171:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:27527877-27529076 [Gene]
  • LOC126861175:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:31326823-31328022 [Gene]
  • LOC126861185:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:35137568-35138767 [Gene]
  • LOC126861186:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:35235787-35236986 [Gene]
  • LOC116216130:CRISPRi-validated cis-regulatory element chr11.1732 [Gene]
  • LOC116216131:CRISPRi-validated cis-regulatory element chr11.1733 [Gene]
  • LOC116216132:CRISPRi-validated cis-regulatory element chr11.1734 [Gene]
  • LOC116216133:CRISPRi-validated cis-regulatory element chr11.1764 [Gene]
  • LOC116216134:CRISPRi-validated cis-regulatory element chr11.1780 [Gene]
  • CSTF3-DT:CSTF3 divergent transcript [Gene - HGNC]
  • DEPDC7:DEP domain containing 7 [Gene - OMIM - HGNC]
  • DNAJC24:DnaJ heat shock protein family (Hsp40) member C24 [Gene - OMIM - HGNC]
  • LOC105980073:E100 enhancer downstream of PAX6 [Gene]
  • LOC105980003:E60 enhancer downstream of PAX6 [Gene]
  • ELF5:E74 like ETS transcription factor 5 [Gene - OMIM - HGNC]
  • EHF:ETS homologous factor [Gene - OMIM - HGNC]
  • FBXO3:F-box protein 3 [Gene - OMIM - HGNC]
  • FBXO3-DT:FBXO3 divergent transcript [Gene - HGNC]
  • PAX6_HS2:HCNE2 enhancer upstream of PAX6 [Gene]
  • PAX6_HS3:HCNE3 enhancer upstream of PAX6 [Gene]
  • PAX6_HS8:HCNE8 enhancer downstream of PAX6 [Gene]
  • KIAA1549L:KIAA1549 like [Gene - OMIM - HGNC]
  • LGR4-AS1:LGR4 antisense RNA 1 [Gene - HGNC]
  • LMO2:LIM domain only 2 [Gene - OMIM - HGNC]
  • LOC126861172:MED14-independent group 3 enhancer GRCh37_chr11:28161954-28163153 [Gene]
  • LOC126861173:MED14-independent group 3 enhancer GRCh37_chr11:28542087-28543286 [Gene]
  • LOC126861177:MED14-independent group 3 enhancer GRCh37_chr11:33082368-33083567 [Gene]
  • LOC126861178:MED14-independent group 3 enhancer GRCh37_chr11:33676703-33677902 [Gene]
  • LOC126861180:MED14-independent group 3 enhancer GRCh37_chr11:34263557-34264756 [Gene]
  • LOC126861184:MED14-independent group 3 enhancer GRCh37_chr11:35051560-35052759 [Gene]
  • MPPED2-AS1:MPPED2 antisense RNA 1 [Gene - HGNC]
  • LOC129390271:MPRA-validated peak1236 silencer [Gene]
  • LOC129390272:MPRA-validated peak1237 silencer [Gene]
  • LOC129390273:MPRA-validated peak1238 silencer [Gene]
  • LOC129390274:MPRA-validated peak1240 silencer [Gene]
  • LOC129390275:MPRA-validated peak1243 silencer [Gene]
  • LOC129390276:MPRA-validated peak1244 silencer [Gene]
  • LOC129390277:MPRA-validated peak1246 silencer [Gene]
  • LOC129390278:MPRA-validated peak1251 silencer [Gene]
  • LOC129390279:MPRA-validated peak1252 silencer [Gene]
  • NAT10:N-acetyltransferase 10 [Gene - OMIM - HGNC]
  • LOC132089928:Neanderthal introgressed variant-containing enhancer experimental_21146 [Gene]
  • LOC132089929:Neanderthal introgressed variant-containing enhancer experimental_21149 [Gene]
  • LOC124421512:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:27955621-27956820 [Gene]
  • LOC126861179:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:33711673-33712872 [Gene]
  • LOC126861181:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:34620676-34621875 [Gene]
  • LOC126861183:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:34706267-34707466 [Gene]
  • PAX6-AS1:PAX6 antisense RNA 1 [Gene - HGNC]
  • PAX6DRR:PAX6 downstream regulatory region [Gene]
  • PAUPAR:PAX6 upstream antisense RNA [Gene - HGNC]
  • LOC106014249:PAX6 upstream regulatory region [Gene]
  • LOC105980005:RB enhancer downstream of PAX6 [Gene]
  • LOC124421511:Sharpr-MPRA regulatory region 104 [Gene]
  • LOC124421510:Sharpr-MPRA regulatory region 11938 [Gene]
  • LOC112081392:Sharpr-MPRA regulatory region 12213 [Gene]
  • LOC124421516:Sharpr-MPRA regulatory region 12713 [Gene]
  • LOC124421514:Sharpr-MPRA regulatory region 12829 [Gene]
  • LOC124433244:Sharpr-MPRA regulatory region 13672 [Gene]
  • LOC124433243:Sharpr-MPRA regulatory region 14004 [Gene]
  • LOC124421513:Sharpr-MPRA regulatory region 1868 [Gene]
  • LOC112081393:Sharpr-MPRA regulatory region 2558 [Gene]
  • LOC121392907:Sharpr-MPRA regulatory region 2953 [Gene]
  • LOC112067717:Sharpr-MPRA regulatory region 4633 [Gene]
  • LOC124421515:Sharpr-MPRA regulatory region 4704 [Gene]
  • LOC112067718:Sharpr-MPRA regulatory region 8127 [Gene]
  • LOC124421517:Sharpr-MPRA regulatory region 9356 [Gene]
  • LOC124421509:Sharpr-MPRA regulatory region 9357 [Gene]
  • LOC110121388:VISTA enhancer hs1531 [Gene]
  • LOC110121452:VISTA enhancer hs1858 [Gene]
  • LOC110120941:VISTA enhancer hs855 [Gene]
  • LOC106707173:WT1 3' enhancer [Gene]
  • WT1-AS:WT1 antisense RNA [Gene - OMIM - HGNC]
  • LOC106707172:WT1 intron 3 regulatory region [Gene]
  • WT1:WT1 transcription factor [Gene - OMIM - HGNC]
  • LOC107982234:WT1/WT1-AS bi-directional promoter region [Gene]
  • ABTB2:ankyrin repeat and BTB domain containing 2 [Gene - HGNC]
  • ANO3:anoctamin 3 [Gene - OMIM - HGNC]
  • BDNF:brain derived neurotrophic factor [Gene - OMIM - HGNC]
  • CAT:catalase [Gene - OMIM - HGNC]
  • CAPRIN1:cell cycle associated protein 1 [Gene - OMIM - HGNC]
  • C11orf91:chromosome 11 open reading frame 91 [Gene - HGNC]
  • CSTF3:cleavage stimulation factor subunit 3 [Gene - OMIM - HGNC]
  • CCDC34:coiled-coil domain containing 34 [Gene - OMIM - HGNC]
  • CCDC73:coiled-coil domain containing 73 [Gene - OMIM - HGNC]
  • DCDC1:doublecortin domain containing 1 [Gene - OMIM - HGNC]
  • ELP4:elongator acetyltransferase complex subunit 4 [Gene - OMIM - HGNC]
  • LOC106007485:enhancer region in intron 7 of PAX6 [Gene]
  • EIF3M:eukaryotic translation initiation factor 3 subunit M [Gene - OMIM - HGNC]
  • FIBIN:fin bud initiation factor homolog [Gene - OMIM - HGNC]
  • FSHB:follicle stimulating hormone subunit beta [Gene - OMIM - HGNC]
  • BBOX1:gamma-butyrobetaine hydroxylase 1 [Gene - OMIM - HGNC]
  • QSER1:glutamine and serine rich 1 [Gene - OMIM - HGNC]
  • HIPK3:homeodomain interacting protein kinase 3 [Gene - OMIM - HGNC]
  • IMMP1L:inner mitochondrial membrane peptidase subunit 1 [Gene - OMIM - HGNC]
  • KIF18A:kinesin family member 18A [Gene - OMIM - HGNC]
  • LGR4:leucine rich repeat containing G protein-coupled receptor 4 [Gene - OMIM - HGNC]
  • LIN7C:lin-7 homolog C, crumbs cell polarity complex component [Gene - OMIM - HGNC]
  • LINC01616:long intergenic non-protein coding RNA 1616 [Gene - HGNC]
  • LINC02546:long intergenic non-protein coding RNA 2546 [Gene - HGNC]
  • LINC02707:long intergenic non-protein coding RNA 2707 [Gene - HGNC]
  • LINC02721:long intergenic non-protein coding RNA 2721 [Gene - HGNC]
  • LINC02722:long intergenic non-protein coding RNA 2722 [Gene - HGNC]
  • LINC02742:long intergenic non-protein coding RNA 2742 [Gene - HGNC]
  • LINC02755:long intergenic non-protein coding RNA 2755 [Gene - HGNC]
  • LINC02758:long intergenic non-protein coding RNA 2758 [Gene - HGNC]
  • LINC02859:long intergenic non-protein coding RNA 2859 [Gene - HGNC]
  • LINC00294:long intergenic non-protein coding RNA 294 [Gene - OMIM - HGNC]
  • LINC03031:long intergenic non-protein coding RNA 3031 [Gene - HGNC]
  • LINC00678:long intergenic non-protein coding RNA 678 [Gene - HGNC]
  • MPPED2:metallophosphoesterase domain containing 2 [Gene - OMIM - HGNC]
  • METTL15:methyltransferase 15, mitochondrial 12S rRNA N4-cytidine [Gene - OMIM - HGNC]
  • MIR1343:microRNA 1343 [Gene - HGNC]
  • MIR610:microRNA 610 [Gene - OMIM - HGNC]
  • MIR8068:microRNA 8068 [Gene - HGNC]
  • MIR8087:microRNA 8087 [Gene - HGNC]
  • MUC15:mucin 15, cell surface associated [Gene - OMIM - HGNC]
  • PAX6:paired box 6 [Gene - OMIM - HGNC]
  • KCNA4:potassium voltage-gated channel subfamily A member 4 [Gene - OMIM - HGNC]
  • PRRG4:proline rich and Gla domain 4 [Gene - OMIM - HGNC]
  • PDHX:pyruvate dehydrogenase complex component X [Gene - OMIM - HGNC]
  • LOC106007493:regulatory region in intron 4 of PAX6 [Gene]
  • RCN1:reticulocalbin 1 [Gene - OMIM - HGNC]
  • SNORD164:small nucleolar RNA, C/D box 164 [Gene - HGNC]
  • SNORA88:small nucleolar RNA, H/ACA box 88 [Gene - HGNC]
  • SLC1A2:solute carrier family 1 member 2 [Gene - OMIM - HGNC]
  • SLC5A12:solute carrier family 5 member 12 [Gene - OMIM - HGNC]
  • TCP11L1:t-complex 11 like 1 [Gene - HGNC]
  • LOC101928385:uncharacterized LOC101928385 [Gene]
Variant type:
copy number loss
Cytogenetic location:
11p14.2-13
Genomic location:
Preferred name:
GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1
HGVS:
  • NC_000011.10:g.(?_26368962)_(35252976_?)del
  • NC_000011.8:g.(?_26347085)_(35231099_?)del
  • NC_000011.9:g.(?_26390509)_(35274523_?)del
Links:
dbVar: nssv585181; dbVar: nsv498469
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
SCV000174975GeneDx
no assertion criteria provided
Pathogenic
(Nov 30, 2010) 		not providedclinical testing

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000174975.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023