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Variant : CV154143 (GRCh38/hg38 9p23(chr9:10527668-13276053)x3) Homo sapiens

Symbol: CV154143
Name: GRCh38/hg38 9p23(chr9:10527668-13276053)x3
Condition: See cases [RCV000133874]
Clinical Significance: pathogenic
Last Evaluated: 01/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: LURAP1L   LURAP1L-AS1   MPDZ   PTPRD   PTPRD-AS2   SNORD137   TYRP1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_10527668)_(13276053_?)dup
NC_000009.11:g.(?_10527668)_(13276052_?)dup
NC_000009.10:g.(?_10517668)_(13266052_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38910,527,668 - 13,276,053CLINVAR
GRCh37910,527,668 - 13,276,052CLINVAR
Build 36910,517,668 - 13,266,052CLINVAR
Cytogenetic Map99p23CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9481459
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-23
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.