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Variant : CV247989 (GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1) Homo sapiens

Symbol: CV247989
Name: GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1
Condition: See cases [RCV000240490]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ACOXL   ACTR3   ANAPC1   BCL2L11   BUB1   CBWD2   CHCHD5   CKAP2L   DPP10   EDAR   FBLN7   FOXD4L1   IL1A   IL1B   IL1F10   IL1RN   IL36A   IL36B   IL36G   IL36RN   IL37   LIMS3   LIMS4   MALL   MERTK   NPHP1   NT5DC4   PAX8   POLR1B   PSD4   RABL2A   RGPD5   RGPD6   RGPD8   SEPTIN10   SLC20A1   SLC35F5   SOWAHC   TMEM87B   TTL   ZC3H6   ZC3H8  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372109,556,627 - 117,570,152CLINVAR
Cytogenetic Map22q12.3-14.1CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 11541880
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.