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GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000054356.7

Allele description [Variation Report for GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1]

GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1

Genes:
  • NT5M:5',3'-nucleotidase, mitochondrial [Gene - OMIM - HGNC]
  • AKAP10:A-kinase anchoring protein 10 [Gene - OMIM - HGNC]
  • LOC130060344:ATAC-STARR-seq lymphoblastoid active region 11772 [Gene]
  • LOC130060345:ATAC-STARR-seq lymphoblastoid active region 11773 [Gene]
  • LOC130060347:ATAC-STARR-seq lymphoblastoid active region 11774 [Gene]
  • LOC130060348:ATAC-STARR-seq lymphoblastoid active region 11775 [Gene]
  • LOC130060349:ATAC-STARR-seq lymphoblastoid active region 11776 [Gene]
  • LOC130060350:ATAC-STARR-seq lymphoblastoid active region 11777 [Gene]
  • LOC130060351:ATAC-STARR-seq lymphoblastoid active region 11778 [Gene]
  • LOC130060352:ATAC-STARR-seq lymphoblastoid active region 11779 [Gene]
  • LOC130060353:ATAC-STARR-seq lymphoblastoid active region 11780 [Gene]
  • LOC130060354:ATAC-STARR-seq lymphoblastoid active region 11781 [Gene]
  • LOC130060355:ATAC-STARR-seq lymphoblastoid active region 11784 [Gene]
  • LOC130060356:ATAC-STARR-seq lymphoblastoid active region 11785 [Gene]
  • LOC130060357:ATAC-STARR-seq lymphoblastoid active region 11786 [Gene]
  • LOC130060359:ATAC-STARR-seq lymphoblastoid active region 11787 [Gene]
  • LOC130060360:ATAC-STARR-seq lymphoblastoid active region 11788 [Gene]
  • LOC130060361:ATAC-STARR-seq lymphoblastoid active region 11789 [Gene]
  • LOC130060362:ATAC-STARR-seq lymphoblastoid active region 11790 [Gene]
  • LOC130060363:ATAC-STARR-seq lymphoblastoid active region 11791 [Gene]
  • LOC130060364:ATAC-STARR-seq lymphoblastoid active region 11792 [Gene]
  • LOC130060366:ATAC-STARR-seq lymphoblastoid active region 11793 [Gene]
  • LOC130060370:ATAC-STARR-seq lymphoblastoid active region 11794 [Gene]
  • LOC130060371:ATAC-STARR-seq lymphoblastoid active region 11795 [Gene]
  • LOC130060373:ATAC-STARR-seq lymphoblastoid active region 11796 [Gene]
  • LOC130060374:ATAC-STARR-seq lymphoblastoid active region 11797 [Gene]
  • LOC130060375:ATAC-STARR-seq lymphoblastoid active region 11798 [Gene]
  • LOC130060379:ATAC-STARR-seq lymphoblastoid active region 11799 [Gene]
  • LOC130060380:ATAC-STARR-seq lymphoblastoid active region 11800 [Gene]
  • LOC130060384:ATAC-STARR-seq lymphoblastoid active region 11802 [Gene]
  • LOC130060385:ATAC-STARR-seq lymphoblastoid active region 11803 [Gene]
  • LOC130060386:ATAC-STARR-seq lymphoblastoid active region 11804 [Gene]
  • LOC130060389:ATAC-STARR-seq lymphoblastoid active region 11805 [Gene]
  • LOC130060390:ATAC-STARR-seq lymphoblastoid active region 11806 [Gene]
  • LOC130060391:ATAC-STARR-seq lymphoblastoid active region 11807 [Gene]
  • LOC130060392:ATAC-STARR-seq lymphoblastoid active region 11808 [Gene]
  • LOC130060393:ATAC-STARR-seq lymphoblastoid active region 11809 [Gene]
  • LOC130060394:ATAC-STARR-seq lymphoblastoid active region 11810 [Gene]
  • LOC130060398:ATAC-STARR-seq lymphoblastoid active region 11811 [Gene]
  • LOC130060400:ATAC-STARR-seq lymphoblastoid active region 11812 [Gene]
  • LOC130060401:ATAC-STARR-seq lymphoblastoid active region 11813 [Gene]
  • LOC130060403:ATAC-STARR-seq lymphoblastoid active region 11815 [Gene]
  • LOC130060404:ATAC-STARR-seq lymphoblastoid active region 11816 [Gene]
  • LOC130060405:ATAC-STARR-seq lymphoblastoid active region 11817 [Gene]
  • LOC130060406:ATAC-STARR-seq lymphoblastoid active region 11818 [Gene]
  • LOC130060408:ATAC-STARR-seq lymphoblastoid active region 11819 [Gene]
  • LOC130060409:ATAC-STARR-seq lymphoblastoid active region 11820 [Gene]
  • LOC130060410:ATAC-STARR-seq lymphoblastoid active region 11821 [Gene]
  • LOC130060411:ATAC-STARR-seq lymphoblastoid active region 11822 [Gene]
  • LOC130060414:ATAC-STARR-seq lymphoblastoid active region 11823 [Gene]
  • LOC130060415:ATAC-STARR-seq lymphoblastoid active region 11824 [Gene]
  • LOC130060417:ATAC-STARR-seq lymphoblastoid active region 11827 [Gene]
  • LOC130060418:ATAC-STARR-seq lymphoblastoid active region 11828 [Gene]
  • LOC130060419:ATAC-STARR-seq lymphoblastoid active region 11829 [Gene]
  • LOC130060420:ATAC-STARR-seq lymphoblastoid active region 11830 [Gene]
  • LOC130060422:ATAC-STARR-seq lymphoblastoid active region 11831 [Gene]
  • LOC130060425:ATAC-STARR-seq lymphoblastoid active region 11833 [Gene]
  • LOC130060426:ATAC-STARR-seq lymphoblastoid active region 11834 [Gene]
  • LOC130060427:ATAC-STARR-seq lymphoblastoid active region 11836 [Gene]
  • LOC130060430:ATAC-STARR-seq lymphoblastoid active region 11838 [Gene]
  • LOC130060432:ATAC-STARR-seq lymphoblastoid active region 11839 [Gene]
  • LOC130060434:ATAC-STARR-seq lymphoblastoid active region 11840 [Gene]
  • LOC130060435:ATAC-STARR-seq lymphoblastoid active region 11843 [Gene]
  • LOC130060436:ATAC-STARR-seq lymphoblastoid active region 11844 [Gene]
  • LOC130060437:ATAC-STARR-seq lymphoblastoid active region 11845 [Gene]
  • LOC130060438:ATAC-STARR-seq lymphoblastoid active region 11846 [Gene]
  • LOC130060441:ATAC-STARR-seq lymphoblastoid active region 11848 [Gene]
  • LOC130060443:ATAC-STARR-seq lymphoblastoid active region 11849 [Gene]
  • LOC130060446:ATAC-STARR-seq lymphoblastoid active region 11850 [Gene]
  • LOC130060447:ATAC-STARR-seq lymphoblastoid active region 11851 [Gene]
  • LOC130060449:ATAC-STARR-seq lymphoblastoid active region 11852 [Gene]
  • LOC130060450:ATAC-STARR-seq lymphoblastoid active region 11853 [Gene]
  • LOC130060451:ATAC-STARR-seq lymphoblastoid active region 11854 [Gene]
  • LOC130060452:ATAC-STARR-seq lymphoblastoid active region 11855 [Gene]
  • LOC130060454:ATAC-STARR-seq lymphoblastoid active region 11856 [Gene]
  • LOC130060458:ATAC-STARR-seq lymphoblastoid active region 11858 [Gene]
  • LOC130060465:ATAC-STARR-seq lymphoblastoid active region 11859 [Gene]
  • LOC130060467:ATAC-STARR-seq lymphoblastoid active region 11860 [Gene]
  • LOC130060469:ATAC-STARR-seq lymphoblastoid active region 11861 [Gene]
  • LOC130060471:ATAC-STARR-seq lymphoblastoid active region 11862 [Gene]
  • LOC130060472:ATAC-STARR-seq lymphoblastoid active region 11864 [Gene]
  • LOC130060476:ATAC-STARR-seq lymphoblastoid active region 11865 [Gene]
  • LOC130060477:ATAC-STARR-seq lymphoblastoid active region 11867 [Gene]
  • LOC130060478:ATAC-STARR-seq lymphoblastoid active region 11868 [Gene]
  • LOC130060346:ATAC-STARR-seq lymphoblastoid silent region 8230 [Gene]
  • LOC130060358:ATAC-STARR-seq lymphoblastoid silent region 8233 [Gene]
  • LOC130060365:ATAC-STARR-seq lymphoblastoid silent region 8234 [Gene]
  • LOC130060367:ATAC-STARR-seq lymphoblastoid silent region 8235 [Gene]
  • LOC130060368:ATAC-STARR-seq lymphoblastoid silent region 8236 [Gene]
  • LOC130060369:ATAC-STARR-seq lymphoblastoid silent region 8237 [Gene]
  • LOC130060372:ATAC-STARR-seq lymphoblastoid silent region 8239 [Gene]
  • LOC130060376:ATAC-STARR-seq lymphoblastoid silent region 8240 [Gene]
  • LOC130060377:ATAC-STARR-seq lymphoblastoid silent region 8241 [Gene]
  • LOC130060378:ATAC-STARR-seq lymphoblastoid silent region 8242 [Gene]
  • LOC130060381:ATAC-STARR-seq lymphoblastoid silent region 8243 [Gene]
  • LOC130060382:ATAC-STARR-seq lymphoblastoid silent region 8244 [Gene]
  • LOC130060383:ATAC-STARR-seq lymphoblastoid silent region 8245 [Gene]
  • LOC130060387:ATAC-STARR-seq lymphoblastoid silent region 8249 [Gene]
  • LOC130060388:ATAC-STARR-seq lymphoblastoid silent region 8250 [Gene]
  • LOC130060395:ATAC-STARR-seq lymphoblastoid silent region 8254 [Gene]
  • LOC130060396:ATAC-STARR-seq lymphoblastoid silent region 8255 [Gene]
  • LOC130060397:ATAC-STARR-seq lymphoblastoid silent region 8256 [Gene]
  • LOC130060399:ATAC-STARR-seq lymphoblastoid silent region 8257 [Gene]
  • LOC130060402:ATAC-STARR-seq lymphoblastoid silent region 8261 [Gene]
  • LOC130060407:ATAC-STARR-seq lymphoblastoid silent region 8262 [Gene]
  • LOC130060412:ATAC-STARR-seq lymphoblastoid silent region 8264 [Gene]
  • LOC130060413:ATAC-STARR-seq lymphoblastoid silent region 8265 [Gene]
  • LOC130060416:ATAC-STARR-seq lymphoblastoid silent region 8266 [Gene]
  • LOC130060421:ATAC-STARR-seq lymphoblastoid silent region 8269 [Gene]
  • LOC130060423:ATAC-STARR-seq lymphoblastoid silent region 8270 [Gene]
  • LOC130060424:ATAC-STARR-seq lymphoblastoid silent region 8271 [Gene]
  • LOC130060428:ATAC-STARR-seq lymphoblastoid silent region 8275 [Gene]
  • LOC130060429:ATAC-STARR-seq lymphoblastoid silent region 8276 [Gene]
  • LOC130060431:ATAC-STARR-seq lymphoblastoid silent region 8278 [Gene]
  • LOC130060433:ATAC-STARR-seq lymphoblastoid silent region 8279 [Gene]
  • LOC130060439:ATAC-STARR-seq lymphoblastoid silent region 8281 [Gene]
  • LOC130060440:ATAC-STARR-seq lymphoblastoid silent region 8282 [Gene]
  • LOC130060442:ATAC-STARR-seq lymphoblastoid silent region 8283 [Gene]
  • LOC130060444:ATAC-STARR-seq lymphoblastoid silent region 8284 [Gene]
  • LOC130060445:ATAC-STARR-seq lymphoblastoid silent region 8285 [Gene]
  • LOC130060448:ATAC-STARR-seq lymphoblastoid silent region 8286 [Gene]
  • LOC130060453:ATAC-STARR-seq lymphoblastoid silent region 8287 [Gene]
  • LOC130060455:ATAC-STARR-seq lymphoblastoid silent region 8288 [Gene]
  • LOC130060456:ATAC-STARR-seq lymphoblastoid silent region 8289 [Gene]
  • LOC130060457:ATAC-STARR-seq lymphoblastoid silent region 8290 [Gene]
  • LOC130060459:ATAC-STARR-seq lymphoblastoid silent region 8291 [Gene]
  • LOC130060460:ATAC-STARR-seq lymphoblastoid silent region 8292 [Gene]
  • LOC130060461:ATAC-STARR-seq lymphoblastoid silent region 8293 [Gene]
  • LOC130060462:ATAC-STARR-seq lymphoblastoid silent region 8294 [Gene]
  • LOC130060463:ATAC-STARR-seq lymphoblastoid silent region 8295 [Gene]
  • LOC130060464:ATAC-STARR-seq lymphoblastoid silent region 8296 [Gene]
  • LOC130060466:ATAC-STARR-seq lymphoblastoid silent region 8297 [Gene]
  • LOC130060468:ATAC-STARR-seq lymphoblastoid silent region 8298 [Gene]
  • LOC130060470:ATAC-STARR-seq lymphoblastoid silent region 8299 [Gene]
  • LOC130060473:ATAC-STARR-seq lymphoblastoid silent region 8302 [Gene]
  • LOC130060474:ATAC-STARR-seq lymphoblastoid silent region 8303 [Gene]
  • LOC130060475:ATAC-STARR-seq lymphoblastoid silent region 8304 [Gene]
  • LOC130060479:ATAC-STARR-seq lymphoblastoid silent region 8306 [Gene]
  • LOC130060480:ATAC-STARR-seq lymphoblastoid silent region 8307 [Gene]
  • LOC130060481:ATAC-STARR-seq lymphoblastoid silent region 8308 [Gene]
  • ATPAF2:ATP synthase mitochondrial F1 complex assembly factor 2 [Gene - OMIM - HGNC]
  • B9D1:B9 domain containing 1 [Gene - OMIM - HGNC]
  • LOC126862515:BRD4-independent group 4 enhancer GRCh37_chr17:17349107-17350306 [Gene]
  • LOC126862516:BRD4-independent group 4 enhancer GRCh37_chr17:17779053-17780252 [Gene]
  • COPS3:COP9 signalosome subunit 3 [Gene - OMIM - HGNC]
  • TOP3A:DNA topoisomerase III alpha [Gene - OMIM - HGNC]
  • EPN2-AS1:EPN2 antisense RNA 1 [Gene - HGNC]
  • EPN2-IT1:EPN2 intronic transcript 1 [Gene - HGNC]
  • FBXW10:F-box and WD repeat domain containing 10 [Gene - OMIM - HGNC]
  • FLII:FLII actin remodeling protein [Gene - OMIM - HGNC]
  • GID4:GID complex subunit 4 homolog [Gene - OMIM - HGNC]
  • GRAPL-AS1:GRAPL antisense RNA 1 [Gene - HGNC]
  • GRAPL:GRB2 related adaptor protein like [Gene - HGNC]
  • GRAP:GRB2 related adaptor protein [Gene - OMIM - HGNC]
  • LLGL1:LLGL scribble cell polarity complex component 1 [Gene - OMIM - HGNC]
  • LOC126862517:MED14-independent group 3 enhancer GRCh37_chr17:19656044-19657243 [Gene]
  • LOC129390843:MPRA-validated peak2757 silencer [Gene]
  • LOC111556156:NFE2L2 motif-containing MPRA enhancer 126 [Gene]
  • LOC132090457:Neanderthal introgressed variant-containing enhancer experimental_47083 [Gene]
  • LOC132090458:Neanderthal introgressed variant-containing enhancer experimental_47087 [Gene]
  • LOC132090459:Neanderthal introgressed variant-containing enhancer experimental_47104 [Gene]
  • LOC113939958:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:16946458-16947657 [Gene]
  • RAI1-AS1:RAI1 antisense RNA 1 [Gene - HGNC]
  • SMCR8:SMCR8-C9orf72 complex subunit [Gene - OMIM - HGNC]
  • SPECC1-DT:SPECC1 divergent transcript [Gene - HGNC]
  • LOC112529899:Sharpr-MPRA regulatory region 10129 [Gene]
  • LOC121852924:Sharpr-MPRA regulatory region 10333 [Gene]
  • LOC121587578:Sharpr-MPRA regulatory region 10806 [Gene]
  • LOC125177430:Sharpr-MPRA regulatory region 11476 [Gene]
  • LOC125177435:Sharpr-MPRA regulatory region 12190 [Gene]
  • LOC125177433:Sharpr-MPRA regulatory region 12990 [Gene]
  • LOC125177429:Sharpr-MPRA regulatory region 14253 [Gene]
  • LOC125177432:Sharpr-MPRA regulatory region 1571 [Gene]
  • LOC125177438:Sharpr-MPRA regulatory region 1687 [Gene]
  • LOC112529900:Sharpr-MPRA regulatory region 2370 [Gene]
  • LOC125177436:Sharpr-MPRA regulatory region 2479 [Gene]
  • LOC121852925:Sharpr-MPRA regulatory region 2588 [Gene]
  • LOC125177431:Sharpr-MPRA regulatory region 3199 [Gene]
  • LOC125177439:Sharpr-MPRA regulatory region 374 [Gene]
  • LOC112529898:Sharpr-MPRA regulatory region 4579 [Gene]
  • LOC125177437:Sharpr-MPRA regulatory region 535 [Gene]
  • LOC121852926:Sharpr-MPRA regulatory region 5861 [Gene]
  • LOC121587580:Sharpr-MPRA regulatory region 6133 [Gene]
  • LOC125177434:Sharpr-MPRA regulatory region 6800 [Gene]
  • LOC121587579:Sharpr-MPRA regulatory region 7387 [Gene]
  • SMCR2:Smith-Magenis syndrome chromosome region, candidate 2 [Gene - HGNC]
  • SMCR5:Smith-Magenis syndrome chromosome region, candidate 5 [Gene - HGNC]
  • TBC1D28:TBC1 domain family member 28 [Gene - HGNC]
  • TNFRSF13B:TNF receptor superfamily member 13B [Gene - OMIM - HGNC]
  • LOC110121461:VISTA enhancer hs1917 [Gene]
  • ALDH3A1:aldehyde dehydrogenase 3 family member A1 [Gene - OMIM - HGNC]
  • ALDH3A2:aldehyde dehydrogenase 3 family member A2 [Gene - OMIM - HGNC]
  • ALKBH5:alkB homolog 5, RNA demethylase [Gene - OMIM - HGNC]
  • DRG2:developmentally regulated GTP binding protein 2 [Gene - OMIM - HGNC]
  • DRC3:dynein regulatory complex subunit 3 [Gene - OMIM - HGNC]
  • EVPLL:envoplakin like [Gene - HGNC]
  • EPN2:epsin 2 [Gene - OMIM - HGNC]
  • FAM106A:family with sequence similarity 106 member A [Gene - HGNC]
  • FAM83G:family with sequence similarity 83 member G [Gene - OMIM - HGNC]
  • FLCN:folliculin [Gene - OMIM - HGNC]
  • FOXO3B:forkhead box O3B [Gene - OMIM - HGNC]
  • LGALS9C:galectin 9C [Gene - HGNC]
  • LINC02076:long intergenic non-protein coding RNA 2076 [Gene - HGNC]
  • LINC02090:long intergenic non-protein coding RNA 2090 [Gene - HGNC]
  • LINC02094:long intergenic non-protein coding RNA 2094 [Gene - HGNC]
  • MED9:mediator complex subunit 9 [Gene - OMIM - HGNC]
  • MIR1180:microRNA 1180 [Gene - HGNC]
  • MIR33B:microRNA 33b [Gene - OMIM - HGNC]
  • MIR6777:microRNA 6777 [Gene - HGNC]
  • MIR6778:microRNA 6778 [Gene - HGNC]
  • MFAP4:microfibril associated protein 4 [Gene - OMIM - HGNC]
  • MIEF2:mitochondrial elongation factor 2 [Gene - OMIM - HGNC]
  • MAPK7:mitogen-activated protein kinase 7 [Gene - OMIM - HGNC]
  • MYO15A:myosin XVA [Gene - OMIM - HGNC]
  • MPRIP:myosin phosphatase Rho interacting protein [Gene - OMIM - HGNC]
  • PEMT:phosphatidylethanolamine N-methyltransferase [Gene - OMIM - HGNC]
  • PLD6:phospholipase D family member 6 [Gene - OMIM - HGNC]
  • PRPSAP2:phosphoribosyl pyrophosphate synthetase associated protein 2 [Gene - OMIM - HGNC]
  • RASD1:ras related dexamethasone induced 1 [Gene - OMIM - HGNC]
  • RAI1:retinoic acid induced 1 [Gene - OMIM - HGNC]
  • RNF112:ring finger protein 112 [Gene - OMIM - HGNC]
  • SHMT1:serine hydroxymethyltransferase 1 [Gene - OMIM - HGNC]
  • SNORD3A:small nucleolar RNA, C/D box 3A [Gene - OMIM - HGNC]
  • SNORD3B-1:small nucleolar RNA, C/D box 3B-1 [Gene - HGNC]
  • SNORD3B-2:small nucleolar RNA, C/D box 3B-2 [Gene - HGNC]
  • SNORD3C:small nucleolar RNA, C/D box 3C [Gene - HGNC]
  • SNORD3D:small nucleolar RNA, C/D box 3D [Gene - HGNC]
  • SNORA59B:small nucleolar RNA, H/ACA box 59B [Gene - HGNC]
  • SLC47A1:solute carrier family 47 member 1 [Gene - OMIM - HGNC]
  • SLC47A2:solute carrier family 47 member 2 [Gene - OMIM - HGNC]
  • SLC5A10:solute carrier family 5 member 10 [Gene - OMIM - HGNC]
  • SPECC1:sperm antigen with calponin homology and coiled-coil domains 1 [Gene - OMIM - HGNC]
  • SREBF1:sterol regulatory element binding transcription factor 1 [Gene - OMIM - HGNC]
  • TRG-CCC3-1:tRNA-Gly (anticodon CCC) 3-1 [Gene - HGNC]
  • TRW-CCA2-1:tRNA-Trp (anticodon CCA) 2-1 [Gene - HGNC]
  • TOM1L2:target of myb1 like 2 membrane trafficking protein [Gene - OMIM - HGNC]
  • TVP23B:trans-golgi network vesicle protein 23 homolog B [Gene - HGNC]
  • TRIM16L:tripartite motif containing 16 like [Gene - HGNC]
  • ULK2:unc-51 like autophagy activating kinase 2 [Gene - OMIM - HGNC]
  • LOC105371566:uncharacterized LOC105371566 [Gene]
  • LOC105371574:uncharacterized LOC105371574 [Gene]
  • LOC284191:uncharacterized LOC284191 [Gene]
  • LOC102724624:uncharacterized protein ENSP00000382042-like [Gene]
  • LOC388436:uncharacterized protein ENSP00000382042 [Gene]
Variant type:
copy number loss
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1
HGVS:
  • NC_000017.11:g.(?_16858444)_(20340442_?)del
  • NC_000017.10:g.(?_16761758)_(20243755_?)del
  • NC_000017.9:g.(?_16702483)_(20184347_?)del
Links:
dbVar: nssv579885; dbVar: nsv533002
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
SCV000081722ISCA Site 6

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA Site 6, SCV000081722.4

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

Last Updated: May 7, 2024