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Variant : CV185729 (GRCh37/hg19 2q33.2-33.3(chr2:204032747-205890355)x1) Homo sapiens

Symbol: CV185729
Name: GRCh37/hg19 2q33.2-33.3(chr2:204032747-205890355)x1
Condition: See cases [RCV000167569]
Clinical Significance: likely pathogenic
Last Evaluated: 03/25/2014
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: ABI2   CD28   CTLA4   CYP20A1   ICOS   NBEAL1   PARD3B   RAPH1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372204,032,747 - 205,890,355CLINVAR
Cytogenetic Map22q33.2-33.3CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 10041677
Created: 2015-05-12
Species: Homo sapiens
Last Modified: 2020-05-26
Status: ACTIVE


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