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Variant : CV164555 (GRCh38/hg38 13q13.3(chr13:37624898-38458496)x3) Homo sapiens

Symbol: CV164555
Name: GRCh38/hg38 13q13.3(chr13:37624898-38458496)x3
Condition: See cases [RCV000142868]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: LINC00571   TRPC4   UFM1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_37624898)_(38458496_?)dup
NC_000013.10:g.(?_38199035)_(39032633_?)dup
NC_000013.9:g.(?_37097035)_(37930633_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381337,624,898 - 38,458,496CLINVAR
GRCh371338,199,035 - 39,032,633CLINVAR
Build 361337,097,035 - 37,930,633CLINVAR
Cytogenetic Map1313q13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490466
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.