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Variant : CV161966 (GRCh38/hg38 Xq26.2-26.3(chrX:133532321-137519462)x2) Homo sapiens

Symbol: CV161966
Name: GRCh38/hg38 Xq26.2-26.3(chrX:133532321-137519462)x2
Condition: See cases [RCV000140818]
Clinical Significance: likely pathogenic
Last Evaluated: 12/17/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADGRG4   ARHGEF6   BRS3   CCDC160   CD40LG   CT45A1   CT45A10   CT45A2   CT45A3   CT45A5   CT45A6   CT45A7   CT45A8   CT45A9   CT55   ETDA   ETDB   ETDC   FAM122B   FAM122C   FHL1   GPC3   GPC3-AS1   GPR101   HPRT1   HTATSF1   INTS6L   INTS6L-AS1   LINC00629   LINC00892   LINC02243   MAP7D3   MIR106A   MIR18B   MIR19B2   MIR20B   MIR363   MIR424   MIR450A1   MIR450A2   MIR450B   MIR503   MIR503HG   MIR542   MIR92A2   MIR934   MMGT1   MOSPD1   PHF6   PLAC1   RBMX   RTL8A   RTL8B   RTL8C   SAGE1   SLC9A6   SMIM10   SMIM10L2A   SMIM10L2B   SMIM10L2B-AS1   SNORD61   VGLL1   ZNF449   ZNF75D  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_133532321)_(137519462_?)dup
NC_000023.10:g.(?_132666349)_(136601621_?)dup
NC_000023.9:g.(?_132494015)_(136429287_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X133,532,321 - 137,519,462CLINVAR
GRCh37X132,666,349 - 136,601,621CLINVAR
Build 36X132,494,015 - 136,429,287CLINVAR
Cytogenetic MapXXq26.2-26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9488346
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-31
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.