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Variant : CV158634 (GRCh38/hg38 15q13.1-13.2(chr15:28694893-30785630)x3) Homo sapiens

Symbol: CV158634
Name: GRCh38/hg38 15q13.1-13.2(chr15:28694893-30785630)x3
Condition: See cases [RCV000137946]
Clinical Significance: pathogenic
Last Evaluated: 11/11/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: APBA2   ARHGAP11B   CHRFAM7A   FAM189A1   GOLGA6L7   GOLGA8H   GOLGA8J   GOLGA8M   GOLGA8Q   GOLGA8R   GOLGA8T   LINC02249   NSMCE3   TJP1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_28694893)_(30785630_?)dup
NC_000015.9:g.(?_28940039)_(31077833_?)dup
NC_000015.8:g.(?_26739080)_(28865125_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381528,694,893 - 30,785,630CLINVAR
GRCh371528,940,039 - 31,077,833CLINVAR
Build 361526,739,080 - 28,865,125CLINVAR
Cytogenetic Map1515q13.1-13.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485497
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-10-01
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.