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Variant : CV160341 (GRCh38/hg38 15q13.1-13.3(chr15:28744504-32222779)x1) Homo sapiens

Symbol: CV160341
Name: GRCh38/hg38 15q13.1-13.3(chr15:28744504-32222779)x1
Condition: See cases [RCV000139417]
Clinical Significance: pathogenic
Last Evaluated: 06/18/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: APBA2   ARHGAP11B   CHRFAM7A   CHRNA7   FAM189A1   FAN1   GOLGA6L7   GOLGA8H   GOLGA8J   GOLGA8Q   GOLGA8R   GOLGA8T   KLF13   LINC02249   LINC02352   MIR211   MTMR10   NSMCE3   OTUD7A   TJP1   TRPM1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_28744504)_(32222779_?)del
NC_000015.9:g.(?_28989650)_(32514980_?)del
NC_000015.8:g.(?_26788691)_(30302272_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381528,744,504 - 32,222,779CLINVAR
GRCh371528,989,650 - 32,514,980CLINVAR
Build 361526,788,691 - 30,302,272CLINVAR
Cytogenetic Map1515q13.1-13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9486948
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



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