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Variant : CV73233 (GRCh38/hg38 Xp11.21-q11.2(chrX:55895084-65038751)x2) Homo sapiens

Symbol: CV73233
Name: GRCh38/hg38 Xp11.21-q11.2(chrX:55895084-65038751)x2
Condition: See cases [RCV000052414]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AMER1   ARHGEF9   ARHGEF9-IT1   ASB12   FAAH2   KLF8   LINC01278   MIR1468   MTMR8   NBDY   NLRP2B   SPIN2A   SPIN2B   SPIN3   SPIN4   UBQLN2   ZC3H12B   ZC4H2   ZXDA   ZXDB  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_55895084)_(65038751_?)dup
NC_000023.10:g.(?_55921517)_(64258631_?)dup
NC_000023.9:g.(?_55938242)_(64175356_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X55,895,084 - 65,038,751CLINVAR
GRCh37X55,921,517 - 64,258,631CLINVAR
Build 36X55,938,242 - 64,175,356CLINVAR
Cytogenetic MapXXp11.21-q11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619401
Created: 2014-05-13
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.