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Variant : CV71603 (GRCh38/hg38 15q13.1-13.3(chr15:28314197-32343758)x1) Homo sapiens

Symbol: CV71603
Name: GRCh38/hg38 15q13.1-13.3(chr15:28314197-32343758)x1
Condition: See cases [RCV000050564]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: APBA2   ARHGAP11B   CHRFAM7A   CHRNA7   FAM189A1   FAN1   GOLGA6L7   GOLGA8F   GOLGA8G   GOLGA8H   GOLGA8J   GOLGA8M   GOLGA8Q   GOLGA8R   GOLGA8T   HERC2   KLF13   LINC02249   LINC02352   MIR211   MIR4509-2   MIR4509-3   MTMR10   NSMCE3   OTUD7A   TJP1   TRPM1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_28314197)_(32343758_?)del
Human AssemblyChrPosition (strand)Source
GRCh381528,314,197 - 32,343,758CLINVAR
GRCh371528,579,796 - 32,635,959CLINVAR
Build 361526,232,938 - 30,423,251CLINVAR
Cytogenetic Map1515q13.1-13.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8617693
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-05-19
Status: ACTIVE


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