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Variant : CV73778 (GRCh38/hg38 Xp22.33-22.2(chrX:20140-10259836)x1) Homo sapiens

Symbol: CV73778
Name: GRCh38/hg38 Xp22.33-22.2(chrX:20140-10259836)x1
Condition: Global developmental delay [RCV000052983]|See cases [RCV000052983]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AKAP17A   ANOS1   ARSD   ARSD-AS1   ARSF   ARSH   ARSL   ASMT   ASMTL   ASMTL-AS1   CD99   CLCN4   CLDN34   CRLF2   CSF2RA   DHRSX   FAM9A   FAM9B   GPR143   GTPBP6   GYG2   IL3RA   LINC00102   LINC00106   LINC00685   LINC01546   MIR3690   MIR4767   MIR4770   MIR6089   MIR651   MXRA5   NLGN4X   P2RY8   PLCXD1   PNPLA4   PPP2R3B   PRKX   PRKX-AS1   PUDP   SHOX   SHROOM2   SLC25A6   SNORA48B   STS   TBL1X   TRI-GAT1-1   TRI-GAT1-2   TRI-GAT1-3   VCX   VCX2   VCX3A   VCX3B   WWC3   XG   ZBED1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_20140)_(10259836_?)del
Human AssemblyChrPosition (strand)Source
GRCh38X20,140 - 10,259,836CLINVAR
GRCh37X70,140 - 10,227,876CLINVAR
Build 36X10,140 - 10,187,876CLINVAR
Cytogenetic MapXXp22.33-22.2CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8619952
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.