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Variant : CV158899 (GRCh38/hg38 Xp21.2(chrX:29601718-30322946)x3) Homo sapiens

Symbol: CV158899
Name: GRCh38/hg38 Xp21.2(chrX:29601718-30322946)x3
Condition: See cases [RCV000138204]
Clinical Significance: likely pathogenic|likely benign
Last Evaluated: 06/01/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: IL1RAPL1   MAGEB1   MAGEB2   MAGEB3   MAGEB4   NR0B1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_29601718)_(30322946_?)dup
NC_000023.10:g.(?_29619835)_(30341063_?)dup
NC_000023.9:g.(?_29529756)_(30250984_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X29,601,718 - 30,322,946CLINVAR
GRCh37X29,619,835 - 30,341,063CLINVAR
Build 36X29,529,756 - 30,250,984CLINVAR
Cytogenetic MapXXp21.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485753
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.