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Variant : CV73234 (GRCh38/hg38 Xq11.1-13.1(chrX:62712219-71136309)x2) Homo sapiens

Symbol: CV73234
Name: GRCh38/hg38 Xq11.1-13.1(chrX:62712219-71136309)x2
Condition: See cases [RCV000052415]
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   AR   ARHGEF9   ARHGEF9-IT1   ARR3   ASB12   AWAT1   AWAT2   CXorf65   DGAT2L6   DLG3   DLG3-AS1   EDA   EDA2R   EFNB1   FAM155B   FOXO4   GDPD2   HEPH   IGBP1   IL2RG   KIF4A   LAS1L   LINC00269   LINC01278   MED12   MIR1468   MIR223   MIR676   MSN   MTMR8   OPHN1   OTUD6A   P2RY4   PDZD11   PJA1   RAB41   SLC7A3   SNORD3E   SNX12   SPIN4   STARD8   TEX11   VSIG4   YIPF6   ZC3H12B   ZC4H2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_62712219)_(71136309_?)dup
NC_000023.10:g.(?_61931689)_(70356159_?)dup
NC_000023.9:g.(?_61848414)_(70272884_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X62,712,219 - 71,136,309CLINVAR
GRCh37X61,931,689 - 70,356,159CLINVAR
Build 36X61,848,414 - 70,272,884CLINVAR
Cytogenetic MapXXq11.1-13.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619402
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-06-30
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.