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GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 5, 2011
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:
RCV000134977.5

Allele description [Variation Report for GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1]

GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1

Genes:
  • AFF1-AS1:AFF1 antisense RNA 1 [Gene - HGNC]
  • AFF1:ALF transcription elongation factor 1 [Gene - OMIM - HGNC]
  • LOC129992747:ATAC-STARR-seq lymphoblastoid active region 21655 [Gene]
  • LOC129992748:ATAC-STARR-seq lymphoblastoid active region 21656 [Gene]
  • LOC129992752:ATAC-STARR-seq lymphoblastoid active region 21657 [Gene]
  • LOC129992755:ATAC-STARR-seq lymphoblastoid active region 21658 [Gene]
  • LOC129992756:ATAC-STARR-seq lymphoblastoid active region 21659 [Gene]
  • LOC129992758:ATAC-STARR-seq lymphoblastoid active region 21660 [Gene]
  • LOC129992759:ATAC-STARR-seq lymphoblastoid active region 21661 [Gene]
  • LOC129992761:ATAC-STARR-seq lymphoblastoid active region 21664 [Gene]
  • LOC129992764:ATAC-STARR-seq lymphoblastoid active region 21666 [Gene]
  • LOC129992765:ATAC-STARR-seq lymphoblastoid active region 21667 [Gene]
  • LOC129992766:ATAC-STARR-seq lymphoblastoid active region 21668 [Gene]
  • LOC129992768:ATAC-STARR-seq lymphoblastoid active region 21670 [Gene]
  • LOC129992769:ATAC-STARR-seq lymphoblastoid active region 21671 [Gene]
  • LOC129992770:ATAC-STARR-seq lymphoblastoid active region 21673 [Gene]
  • LOC129992771:ATAC-STARR-seq lymphoblastoid active region 21674 [Gene]
  • LOC129992772:ATAC-STARR-seq lymphoblastoid active region 21676 [Gene]
  • LOC129992774:ATAC-STARR-seq lymphoblastoid active region 21677 [Gene]
  • LOC129992775:ATAC-STARR-seq lymphoblastoid active region 21678 [Gene]
  • LOC129992776:ATAC-STARR-seq lymphoblastoid active region 21680 [Gene]
  • LOC129992777:ATAC-STARR-seq lymphoblastoid active region 21681 [Gene]
  • LOC129992779:ATAC-STARR-seq lymphoblastoid active region 21682 [Gene]
  • LOC129992780:ATAC-STARR-seq lymphoblastoid active region 21683 [Gene]
  • LOC129992781:ATAC-STARR-seq lymphoblastoid active region 21684 [Gene]
  • LOC129992782:ATAC-STARR-seq lymphoblastoid active region 21685 [Gene]
  • LOC129992783:ATAC-STARR-seq lymphoblastoid active region 21686 [Gene]
  • LOC129992786:ATAC-STARR-seq lymphoblastoid active region 21689 [Gene]
  • LOC129992790:ATAC-STARR-seq lymphoblastoid active region 21690 [Gene]
  • LOC129992791:ATAC-STARR-seq lymphoblastoid active region 21691 [Gene]
  • LOC129992792:ATAC-STARR-seq lymphoblastoid active region 21692 [Gene]
  • LOC129992793:ATAC-STARR-seq lymphoblastoid active region 21693 [Gene]
  • LOC129992794:ATAC-STARR-seq lymphoblastoid active region 21694 [Gene]
  • LOC129992795:ATAC-STARR-seq lymphoblastoid active region 21695 [Gene]
  • LOC129992798:ATAC-STARR-seq lymphoblastoid active region 21697 [Gene]
  • LOC129992799:ATAC-STARR-seq lymphoblastoid active region 21698 [Gene]
  • LOC129992800:ATAC-STARR-seq lymphoblastoid active region 21699 [Gene]
  • LOC129992802:ATAC-STARR-seq lymphoblastoid active region 21700 [Gene]
  • LOC129992805:ATAC-STARR-seq lymphoblastoid active region 21701 [Gene]
  • LOC129992806:ATAC-STARR-seq lymphoblastoid active region 21702 [Gene]
  • LOC129992807:ATAC-STARR-seq lymphoblastoid active region 21703 [Gene]
  • LOC129992808:ATAC-STARR-seq lymphoblastoid active region 21704 [Gene]
  • LOC129992811:ATAC-STARR-seq lymphoblastoid active region 21706 [Gene]
  • LOC129992812:ATAC-STARR-seq lymphoblastoid active region 21707 [Gene]
  • LOC129992816:ATAC-STARR-seq lymphoblastoid active region 21710 [Gene]
  • LOC129992817:ATAC-STARR-seq lymphoblastoid active region 21712 [Gene]
  • LOC129992819:ATAC-STARR-seq lymphoblastoid active region 21713 [Gene]
  • LOC129992820:ATAC-STARR-seq lymphoblastoid active region 21714 [Gene]
  • LOC129992821:ATAC-STARR-seq lymphoblastoid active region 21715 [Gene]
  • LOC129992822:ATAC-STARR-seq lymphoblastoid active region 21716 [Gene]
  • LOC129992826:ATAC-STARR-seq lymphoblastoid active region 21717 [Gene]
  • LOC129992827:ATAC-STARR-seq lymphoblastoid active region 21719 [Gene]
  • LOC129992828:ATAC-STARR-seq lymphoblastoid active region 21720 [Gene]
  • LOC129992829:ATAC-STARR-seq lymphoblastoid active region 21721 [Gene]
  • LOC129992830:ATAC-STARR-seq lymphoblastoid active region 21722 [Gene]
  • LOC129992834:ATAC-STARR-seq lymphoblastoid active region 21723 [Gene]
  • LOC129992838:ATAC-STARR-seq lymphoblastoid active region 21725 [Gene]
  • LOC129992839:ATAC-STARR-seq lymphoblastoid active region 21726 [Gene]
  • LOC129992840:ATAC-STARR-seq lymphoblastoid active region 21727 [Gene]
  • LOC129992841:ATAC-STARR-seq lymphoblastoid active region 21728 [Gene]
  • LOC129992843:ATAC-STARR-seq lymphoblastoid active region 21729 [Gene]
  • LOC129992749:ATAC-STARR-seq lymphoblastoid silent region 15523 [Gene]
  • LOC129992750:ATAC-STARR-seq lymphoblastoid silent region 15524 [Gene]
  • LOC129992751:ATAC-STARR-seq lymphoblastoid silent region 15525 [Gene]
  • LOC129992753:ATAC-STARR-seq lymphoblastoid silent region 15526 [Gene]
  • LOC129992754:ATAC-STARR-seq lymphoblastoid silent region 15527 [Gene]
  • LOC129992757:ATAC-STARR-seq lymphoblastoid silent region 15528 [Gene]
  • LOC129992760:ATAC-STARR-seq lymphoblastoid silent region 15529 [Gene]
  • LOC129992762:ATAC-STARR-seq lymphoblastoid silent region 15533 [Gene]
  • LOC129992763:ATAC-STARR-seq lymphoblastoid silent region 15534 [Gene]
  • LOC129992767:ATAC-STARR-seq lymphoblastoid silent region 15537 [Gene]
  • LOC129992773:ATAC-STARR-seq lymphoblastoid silent region 15539 [Gene]
  • LOC129992778:ATAC-STARR-seq lymphoblastoid silent region 15540 [Gene]
  • LOC129992784:ATAC-STARR-seq lymphoblastoid silent region 15542 [Gene]
  • LOC129992785:ATAC-STARR-seq lymphoblastoid silent region 15543 [Gene]
  • LOC129992787:ATAC-STARR-seq lymphoblastoid silent region 15544 [Gene]
  • LOC129992788:ATAC-STARR-seq lymphoblastoid silent region 15545 [Gene]
  • LOC129992789:ATAC-STARR-seq lymphoblastoid silent region 15546 [Gene]
  • LOC129992796:ATAC-STARR-seq lymphoblastoid silent region 15548 [Gene]
  • LOC129992797:ATAC-STARR-seq lymphoblastoid silent region 15549 [Gene]
  • LOC129992801:ATAC-STARR-seq lymphoblastoid silent region 15552 [Gene]
  • LOC129992803:ATAC-STARR-seq lymphoblastoid silent region 15553 [Gene]
  • LOC129992804:ATAC-STARR-seq lymphoblastoid silent region 15554 [Gene]
  • LOC129992809:ATAC-STARR-seq lymphoblastoid silent region 15555 [Gene]
  • LOC129992810:ATAC-STARR-seq lymphoblastoid silent region 15557 [Gene]
  • LOC129992813:ATAC-STARR-seq lymphoblastoid silent region 15559 [Gene]
  • LOC129992814:ATAC-STARR-seq lymphoblastoid silent region 15560 [Gene]
  • LOC129992815:ATAC-STARR-seq lymphoblastoid silent region 15561 [Gene]
  • LOC129992818:ATAC-STARR-seq lymphoblastoid silent region 15563 [Gene]
  • LOC129992823:ATAC-STARR-seq lymphoblastoid silent region 15564 [Gene]
  • LOC129992824:ATAC-STARR-seq lymphoblastoid silent region 15565 [Gene]
  • LOC129992825:ATAC-STARR-seq lymphoblastoid silent region 15566 [Gene]
  • LOC129992831:ATAC-STARR-seq lymphoblastoid silent region 15567 [Gene]
  • LOC129992832:ATAC-STARR-seq lymphoblastoid silent region 15568 [Gene]
  • LOC129992833:ATAC-STARR-seq lymphoblastoid silent region 15569 [Gene]
  • LOC129992835:ATAC-STARR-seq lymphoblastoid silent region 15570 [Gene]
  • LOC129992836:ATAC-STARR-seq lymphoblastoid silent region 15571 [Gene]
  • LOC129992837:ATAC-STARR-seq lymphoblastoid silent region 15572 [Gene]
  • LOC129992842:ATAC-STARR-seq lymphoblastoid silent region 15573 [Gene]
  • LOC129992844:ATAC-STARR-seq lymphoblastoid silent region 15574 [Gene]
  • LOC129992845:ATAC-STARR-seq lymphoblastoid silent region 15575 [Gene]
  • ABCG2:ATP binding cassette subfamily G member 2 (Junior blood group) [Gene - OMIM - HGNC]
  • BMPR1B-DT:BMPR1B divergent transcript [Gene - HGNC]
  • LOC126807097:BRD4-independent group 4 enhancer GRCh37_chr4:84091705-84092904 [Gene]
  • LOC126807100:BRD4-independent group 4 enhancer GRCh37_chr4:84775825-84777024 [Gene]
  • LOC126807104:BRD4-independent group 4 enhancer GRCh37_chr4:86587778-86588977 [Gene]
  • LOC126807106:BRD4-independent group 4 enhancer GRCh37_chr4:88813182-88814381 [Gene]
  • LOC126807108:BRD4-independent group 4 enhancer GRCh37_chr4:89928887-89930086 [Gene]
  • LOC126807110:BRD4-independent group 4 enhancer GRCh37_chr4:91525257-91526456 [Gene]
  • LOC126807112:BRD4-independent group 4 enhancer GRCh37_chr4:94506413-94507612 [Gene]
  • LOC126807098:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:84237230-84238429 [Gene]
  • LOC126807099:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:84309555-84310754 [Gene]
  • LOC112997544:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:84539256-84540455 [Gene]
  • LOC126807101:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:85612241-85613440 [Gene]
  • LOC126807103:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:86322472-86323671 [Gene]
  • CDS1:CDP-diacylglycerol synthase 1 [Gene - OMIM - HGNC]
  • COPS4:COP9 signalosome subunit 4 [Gene - OMIM - HGNC]
  • FAM13A-AS1:FAM13A antisense RNA 1 [Gene - OMIM - HGNC]
  • GPRIN3:GPRIN family member 3 [Gene - OMIM - HGNC]
  • HERC3:HECT and RLD domain containing E3 ubiquitin protein ligase 3 [Gene - OMIM - HGNC]
  • HERC5:HECT and RLD domain containing E3 ubiquitin protein ligase 5 [Gene - OMIM - HGNC]
  • HERC6:HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 [Gene - OMIM - HGNC]
  • LOC111365205:HNF1 motif-containing MPRA enhancer 87 [Gene]
  • HNRNPD-DT:HNRNPD divergent transcript [Gene - HGNC]
  • LOC110351180:IBSP 5' regulatory region [Gene]
  • MAPK10-AS1:MAPK10 antisense RNA 1 [Gene - HGNC]
  • LOC126807096:MED14-independent group 3 enhancer GRCh37_chr4:82414778-82415977 [Gene]
  • LOC126807102:MED14-independent group 3 enhancer GRCh37_chr4:86241730-86242929 [Gene]
  • LOC126807105:MED14-independent group 3 enhancer GRCh37_chr4:88740127-88741326 [Gene]
  • LOC126807107:MED14-independent group 3 enhancer GRCh37_chr4:89585126-89586325 [Gene]
  • LOC126807109:MED14-independent group 3 enhancer GRCh37_chr4:90601839-90603038 [Gene]
  • LOC126807111:MED14-independent group 3 enhancer GRCh37_chr4:93104511-93105710 [Gene]
  • LOC129389223:MPRA-validated peak5067 silencer [Gene]
  • LOC129389224:MPRA-validated peak5068 silencer [Gene]
  • LOC129389225:MPRA-validated peak5070 silencer [Gene]
  • NKX6-1:NK6 homeobox 1 [Gene - OMIM - HGNC]
  • LOC126807095:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:82085265-82086464 [Gene]
  • LOC112997543:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:84469077-84470276 [Gene]
  • PDLIM5:PDZ and LIM domain 5 [Gene - OMIM - HGNC]
  • PIGY-DT:PIGY divergent transcript [Gene - HGNC]
  • PYURF:PIGY upstream open reading frame [Gene - OMIM - HGNC]
  • PPM1K-DT:PPM1K divergent transcript [Gene - HGNC]
  • PRKG2-AS1:PRKG2 antisense RNA 1 [Gene - HGNC]
  • RASGEF1B:RasGEF domain family member 1B [Gene - OMIM - HGNC]
  • ARHGAP24:Rho GTPase activating protein 24 [Gene - OMIM - HGNC]
  • SEC31A:SEC31 homolog A, COPII coat complex component [Gene - OMIM - HGNC]
  • SMARCAD1-DT:SMARCAD1 divergent transcript [Gene - HGNC]
  • SNCA-AS1:SNCA antisense RNA 1 [Gene - HGNC]
  • SPARCL1:SPARC like 1 [Gene - OMIM - HGNC]
  • LOC110283621:SPP1 5' regulatory region [Gene]
  • SMARCAD1:SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 [Gene - OMIM - HGNC]
  • LOC123477780:Sharpr-MPRA regulatory region 10097/5096 [Gene]
  • LOC123477779:Sharpr-MPRA regulatory region 10323 [Gene]
  • LOC112997539:Sharpr-MPRA regulatory region 10366 [Gene]
  • LOC112997537:Sharpr-MPRA regulatory region 10449 [Gene]
  • LOC112997541:Sharpr-MPRA regulatory region 10996 [Gene]
  • LOC112997546:Sharpr-MPRA regulatory region 11108 [Gene]
  • LOC121725178:Sharpr-MPRA regulatory region 11449 [Gene]
  • LOC123477781:Sharpr-MPRA regulatory region 119 [Gene]
  • LOC121053188:Sharpr-MPRA regulatory region 12874 [Gene]
  • LOC123477788:Sharpr-MPRA regulatory region 1337 [Gene]
  • LOC112997540:Sharpr-MPRA regulatory region 13773 [Gene]
  • LOC123477789:Sharpr-MPRA regulatory region 14184 [Gene]
  • LOC121725176:Sharpr-MPRA regulatory region 2168 [Gene]
  • LOC123477785:Sharpr-MPRA regulatory region 2987 [Gene]
  • LOC123477778:Sharpr-MPRA regulatory region 3757 [Gene]
  • LOC123477777:Sharpr-MPRA regulatory region 4363 [Gene]
  • LOC112997545:Sharpr-MPRA regulatory region 4612 [Gene]
  • LOC121725175:Sharpr-MPRA regulatory region 4670 [Gene]
  • LOC112997547:Sharpr-MPRA regulatory region 519 [Gene]
  • LOC123477782:Sharpr-MPRA regulatory region 543 [Gene]
  • LOC123477784:Sharpr-MPRA regulatory region 5607 [Gene]
  • LOC112997542:Sharpr-MPRA regulatory region 5990 [Gene]
  • LOC123477783:Sharpr-MPRA regulatory region 601 [Gene]
  • LOC123477787:Sharpr-MPRA regulatory region 6143 [Gene]
  • LOC123477774:Sharpr-MPRA regulatory region 7334 [Gene]
  • LOC123477786:Sharpr-MPRA regulatory region 7691 [Gene]
  • LOC112997538:Sharpr-MPRA regulatory region 7954 [Gene]
  • LOC123477775:Sharpr-MPRA regulatory region 8005 [Gene]
  • LOC123477772:Sharpr-MPRA regulatory region 8336 [Gene]
  • LOC121725177:Sharpr-MPRA regulatory region 8695 [Gene]
  • LOC123477773:Sharpr-MPRA regulatory region 8782 [Gene]
  • LOC123477776:Sharpr-MPRA regulatory region 8979 [Gene]
  • LOC121725174:Sharpr-MPRA regulatory region 9952 [Gene]
  • THAP9:THAP domain containing 9 [Gene - OMIM - HGNC]
  • THAP9-AS1:THAP9 antisense RNA 1 [Gene - HGNC]
  • LOC110121083:VISTA enhancer hs1374 [Gene]
  • LOC110121104:VISTA enhancer hs1438 [Gene]
  • LOC110120743:VISTA enhancer hs680 [Gene]
  • LOC110120752:VISTA enhancer hs712 [Gene]
  • WDFY3:WD repeat and FYVE domain containing 3 [Gene - OMIM - HGNC]
  • WDFY3-AS1:WDFY3 antisense RNA 1 [Gene - HGNC]
  • WDFY3-AS2:WDFY3 antisense RNA 2 [Gene - HGNC]
  • ABRAXAS1:abraxas 1, BRCA1 A complex subunit [Gene - OMIM - HGNC]
  • ATOH1:atonal bHLH transcription factor 1 [Gene - OMIM - HGNC]
  • BMP3:bone morphogenetic protein 3 [Gene - OMIM - HGNC]
  • BMPR1B:bone morphogenetic protein receptor type 1B [Gene - OMIM - HGNC]
  • C4orf36:chromosome 4 open reading frame 36 [Gene - HGNC]
  • CFAP299:cilia and flagella associated protein 299 [Gene - HGNC]
  • COQ2:coenzyme Q2, polyprenyltransferase [Gene - OMIM - HGNC]
  • CCSER1:coiled-coil serine rich protein 1 [Gene - OMIM - HGNC]
  • DMP1:dentin matrix acidic phosphoprotein 1 [Gene - OMIM - HGNC]
  • DSPP:dentin sialophosphoprotein [Gene - OMIM - HGNC]
  • ENOPH1:enolase-phosphatase 1 [Gene - HGNC]
  • FAM13A:family with sequence similarity 13 member A [Gene - OMIM - HGNC]
  • GRID2:glutamate ionotropic receptor delta type subunit 2 [Gene - OMIM - HGNC]
  • GPAT3:glycerol-3-phosphate acyltransferase 3 [Gene - OMIM - HGNC]
  • LOC107988048:heart enhancer 9 [Gene]
  • HELQ:helicase, POLQ like [Gene - OMIM - HGNC]
  • HPGDS:hematopoietic prostaglandin D synthase [Gene - OMIM - HGNC]
  • HPSE:heparanase [Gene - OMIM - HGNC]
  • HNRNPDL:heterogeneous nuclear ribonucleoprotein D like [Gene - OMIM - HGNC]
  • HNRNPD:heterogeneous nuclear ribonucleoprotein D [Gene - OMIM - HGNC]
  • HSD17B11:hydroxysteroid 17-beta dehydrogenase 11 [Gene - OMIM - HGNC]
  • HSD17B13:hydroxysteroid 17-beta dehydrogenase 13 [Gene - OMIM - HGNC]
  • IBSP:integrin binding sialoprotein [Gene - OMIM - HGNC]
  • KLHL8:kelch like family member 8 [Gene - OMIM - HGNC]
  • LIN54:lin-54 DREAM MuvB core complex component [Gene - OMIM - HGNC]
  • LNCPRESS2:lncRNA p53 regulated and ESC associated 2 [Gene - HGNC]
  • LINC02994:long intergenic non-protein coding RNA 2994 [Gene - HGNC]
  • LINC00575:long intergenic non-protein coding RNA 575 [Gene - HGNC]
  • MEPE:matrix extracellular phosphoglycoprotein [Gene - OMIM - HGNC]
  • MIR4451:microRNA 4451 [Gene - HGNC]
  • MIR4452:microRNA 4452 [Gene - HGNC]
  • MIR5705:microRNA 5705 [Gene - HGNC]
  • MIR575:microRNA 575 [Gene - HGNC]
  • MRPS18C:mitochondrial ribosomal protein S18C [Gene - OMIM - HGNC]
  • MAPK10:mitogen-activated protein kinase 10 [Gene - OMIM - HGNC]
  • MMRN1:multimerin 1 [Gene - OMIM - HGNC]
  • NAP1L5:nucleosome assembly protein 1 like 5 [Gene - OMIM - HGNC]
  • NUDT9:nudix hydrolase 9 [Gene - OMIM - HGNC]
  • PIGY:phosphatidylinositol glycan anchor biosynthesis class Y [Gene - OMIM - HGNC]
  • PLAC8:placenta associated 8 [Gene - OMIM - HGNC]
  • PKD2:polycystin 2, transient receptor potential cation channel [Gene - OMIM - HGNC]
  • PRKG2:protein kinase cGMP-dependent 2 [Gene - OMIM - HGNC]
  • PPM1K:protein phosphatase, Mg2+/Mn2+ dependent 1K [Gene - OMIM - HGNC]
  • PTPN13:protein tyrosine phosphatase non-receptor type 13 [Gene - OMIM - HGNC]
  • SPP1:secreted phosphoprotein 1 [Gene - OMIM - HGNC]
  • SCPPPQ1:secretory calcium-binding phosphoprotein proline-glutamine rich 1 [Gene - HGNC]
  • SNORD143:small nucleolar RNA, C/D box 143 [Gene - HGNC]
  • SNORD144:small nucleolar RNA, C/D box 144 [Gene - HGNC]
  • SLC10A6:solute carrier family 10 member 6 [Gene - OMIM - HGNC]
  • SCD5:stearoyl-CoA desaturase 5 [Gene - OMIM - HGNC]
  • SNCA:synuclein alpha [Gene - OMIM - HGNC]
  • TIGD2:tigger transposable element derived 2 [Gene - OMIM - HGNC]
  • TMEM150C:transmembrane protein 150C [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
4q21.21-22.3
Genomic location:
Preferred name:
GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1
HGVS:
  • NC_000004.12:g.(?_80879777)_(94809447_?)del
  • NC_000004.10:g.(?_82019955)_(95949621_?)del
  • NC_000004.11:g.(?_81800931)_(95730598_?)del
Links:
dbVar: nssv584527; dbVar: nsv498133
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
SCV000174639ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Jan 5, 2011) 		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, SCV000174639.4

#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