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Variant : CV382779 (GRCh37/hg19 20p13(chr20:61568-806878)x1) Homo sapiens

Symbol: CV382779
Name: GRCh37/hg19 20p13(chr20:61568-806878)x1
Condition: See cases [RCV000447172]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: C20orf96   CSNK2A1   DEFB125   DEFB126   DEFB127   DEFB128   DEFB129   DEFB132   NRSN2   RBCK1   SCRT2   SLC52A3   SOX12   SRXN1   TBC1D20   TCF15   TRIB3   ZCCHC3  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372061,568 - 806,878CLINVAR
Cytogenetic Map2020p13CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 12851890
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-06-23
Status: ACTIVE


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