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Variant : CV676630 (GRCh37/hg19 2p16.1(chr2:56175876-60780215)x1) Homo sapiens

Symbol: CV676630
Name: GRCh37/hg19 2p16.1(chr2:56175876-60780215)x1
Condition: not provided [RCV000849729]
Clinical Significance: pathogenic
Last Evaluated: 05/19/2017
Review Status: no assertion criteria provided
Related Genes: BCL11A   CCDC85A   FANCL   MIR216A   MIR217   VRK2  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37256,175,876 - 60,780,215CLINVAR
Cytogenetic Map22p16.1CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 14981227
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2020-03-17
Status: ACTIVE


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