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Variant : CV553991 (GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1) Homo sapiens

Symbol: CV553991
Name: GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1
Condition: not provided [RCV000682296]
Clinical Significance: pathogenic
Last Evaluated: 07/25/2017
Review Status: no assertion criteria provided
Related Genes: ATG3   ATP6V1A   BOC   BTLA   CCDC191   CCDC80   CD200   CD200R1   CD200R1L   CFAP44   DRD3   GAP43   GRAMD1C   GTPBP8   LSAMP   NAA50   NEPRO   QTRT2   SIDT1   SLC35A5   SLC9C1   SPICE1   TIGIT   USF3   ZBTB20   ZDHHC23   ZNF80  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh373111,894,832 - 116,930,109CLINVAR
Cytogenetic Map33q13.2-13.31CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 13795073
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-10-15
Status: ACTIVE


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