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Variant : CV156478 (GRCh38/hg38 15q13.2-13.3(chr15:30361656-32150923)x3) Homo sapiens

Symbol: CV156478
Name: GRCh38/hg38 15q13.2-13.3(chr15:30361656-32150923)x3
Condition: See cases [RCV000135974]
Clinical Significance: pathogenic
Last Evaluated: 08/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARHGAP11B   CHRFAM7A   CHRNA7   FAN1   GOLGA8H   GOLGA8Q   GOLGA8R   KLF13   LINC02352   MIR211   MTMR10   OTUD7A   TRPM1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_30361656)_(32150923_?)dup
NC_000015.9:g.(?_30653859)_(32443124_?)dup
NC_000015.8:g.(?_28441151)_(30230416_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381530,361,656 - 32,150,923CLINVAR
GRCh371530,653,859 - 32,443,124CLINVAR
Build 361528,441,151 - 30,230,416CLINVAR
Cytogenetic Map1515q13.2-13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9483540
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-10-15
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.