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Variant : CV156447 (GRCh38/hg38 Xq28(chrX:153688340-153704118)x2) Homo sapiens

Symbol: CV156447
Name: GRCh38/hg38 Xq28(chrX:153688340-153704118)x2
Condition: See cases [RCV000135947]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 02/25/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: BCAP31   SLC6A8  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_153688340)_(153704118_?)dup
NW_003871103.3:g.(?_1122323)_(1138101_?)dup
NC_000023.9:g.(?_152606989)_(152622767_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,688,340 - 153,704,118CLINVAR
Build 36X152,606,989 - 152,622,767CLINVAR
Cytogenetic MapXXq28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9483513
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-09-10
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.