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Variant : CV156263 (GRCh38/hg38 15q13.2-13.3(chr15:30361674-31572487)x3) Homo sapiens

Symbol: CV156263
Name: GRCh38/hg38 15q13.2-13.3(chr15:30361674-31572487)x3
Condition: See cases [RCV000135791]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARHGAP11B   CHRFAM7A   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.(?_30361674)_(31572487_?)dup
NC_000015.9:g.(?_30653877)_(31864690_?)dup
NC_000015.8:g.(?_28441169)_(29651982_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381530,361,674 - 31,572,487CLINVAR
GRCh371530,653,877 - 31,864,690CLINVAR
Build 361528,441,169 - 29,651,982CLINVAR
Cytogenetic Map1515q13.2-13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9483357
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.