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Variant : CV157333 (GRCh38/hg38 Xp22.33-22.31(chrX:2765636-6317066)x1) Homo sapiens

Symbol: CV157333
Name: GRCh38/hg38 Xp22.33-22.31(chrX:2765636-6317066)x1
Condition: See cases [RCV000136749]
Clinical Significance: pathogenic
Last Evaluated: 10/01/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARSD   ARSD-AS1   ARSF   ARSH   ARSL   GYG2   LINC01546   MXRA5   NLGN4X   PRKX   PRKX-AS1   SNORA48B   TRI-GAT1-1   TRI-GAT1-2   TRI-GAT1-3   XG  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_2765636)_(6317066_?)del
NC_000023.10:g.(?_2683677)_(6235107_?)del
NC_000023.9:g.(?_2693677)_(6245107_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X2,765,636 - 6,317,066CLINVAR
GRCh37X2,683,677 - 6,235,107CLINVAR
Build 36X2,693,677 - 6,245,107CLINVAR
Cytogenetic MapXXp22.33-22.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484310
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-17
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.