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Variant : CV73149 (GRCh38/hg38 Xp22.33(chrX:26102-3730888)x3) Homo sapiens

Symbol: CV73149
Name: GRCh38/hg38 Xp22.33(chrX:26102-3730888)x3
Condition: Global developmental delay [RCV000052323]|See cases [RCV000052323]
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   ARSD   ARSD-AS1   ARSF   ARSH   ARSL   ASMT   ASMTL   ASMTL-AS1   CD99   CRLF2   CSF2RA   DHRSX   GTPBP6   GYG2   IL3RA   LINC00102   LINC00106   LINC00685   LINC01546   MIR3690   MIR6089   MXRA5   P2RY8   PLCXD1   PPP2R3B   PRKX   PRKX-AS1   SHOX   SLC25A6   SNORA48B   XG   ZBED1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_26102)_(3730888_?)dup
NC_000023.10:g.(?_76102)_(3648929_?)dup
NC_000023.9:g.(?_16102)_(3658929_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X26,102 - 3,730,888CLINVAR
GRCh37X76,102 - 3,648,929CLINVAR
Build 36X16,102 - 3,658,929CLINVAR
Cytogenetic MapXXp22.33CLINVAR
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: 8619316
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
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.