GRCh38/hg38 Xq26.2-26.3(chrX:133532321-137519462)x2Rat Genome Database

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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
RGD ID: 9488346
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   AL450472.1   ARHGEF6   BRS3   CCDC160   CD40LG   CT45A1   CT45A10   CT45A2   CT45A3   CT45A5   CT45A6   CT45A7   CT45A8   CT45A9   CT55   ETDA   ETDB   ETDC   FHL1   GPC3   GPC3-AS1   GPR101   HPRT1   HTATSF1   INTS6L   INTS6L-AS1   LINC00629   LINC00892   LINC02243   LOC107032760   LOC110120761   LOC113875012   LOC116309160   MAP7D3   MIR106A   MIR18B   MIR19B2   MIR20B   MIR363   MIR424   MIR450A1   MIR450A2   MIR450B   MIR503   MIR503HG   MIR542   MIR92A2   MIR934   MMGT1   MOSPD1   PABIR2   PABIR3   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



Additional References at PubMed
PMID:20466091  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000140818 CLINVAR
NCBI Gene 100287728 CLINVAR
  100506790 CLINVAR
  107032760 CLINVAR
  110120761 CLINVAR
  113875012 CLINVAR
  116309160 CLINVAR
  340581 CLINVAR
  ARHGEF6 CLINVAR
  BRS3 CLINVAR
  CCDC160 CLINVAR
  CD40LG CLINVAR
  CT45A1 CLINVAR
  CT45A10 CLINVAR
  CT45A2 CLINVAR
  CT45A3 CLINVAR
  CT45A5 CLINVAR
  CT45A6 CLINVAR
  CT45A7 CLINVAR
  CT45A8 CLINVAR
  CT45A9 CLINVAR
  CT55 CLINVAR
  DDX26B CLINVAR
  DDX26B-AS1 CLINVAR
  ETDA CLINVAR
  ETDC CLINVAR
  FAM122B CLINVAR
  FAM122C CLINVAR
  FAM127A CLINVAR
  FAM127B CLINVAR
  FAM127C CLINVAR
  FHL1 CLINVAR
  GPC3 CLINVAR
  GPC3-AS1 CLINVAR
  GPR101 CLINVAR
  GPR112 CLINVAR
  HPRT1 CLINVAR
  HTATSF1 CLINVAR
  LINC00086 CLINVAR
  LINC00087 CLINVAR
  LINC00629 CLINVAR
  LINC00633 CLINVAR
  LINC00892 CLINVAR
  MAP7D3 CLINVAR
  MIR106A CLINVAR
  MIR18B CLINVAR
  MIR19B2 CLINVAR
  MIR20B CLINVAR
  MIR363 CLINVAR
  MIR424 CLINVAR
  MIR450A1 CLINVAR
  MIR450A2 CLINVAR
  MIR450B CLINVAR
  MIR503 CLINVAR
  MIR503HG CLINVAR
  MIR542 CLINVAR
  MIR92A2 CLINVAR
  MIR934 CLINVAR
  MMGT1 CLINVAR
  MOSPD1 CLINVAR
  PHF6 CLINVAR
  PLAC1 CLINVAR
  RBMX CLINVAR
  SAGE1 CLINVAR
  SLC9A6 CLINVAR
  SMIM10 CLINVAR
  SNORD61 CLINVAR
  VGLL1 CLINVAR
  ZNF449 CLINVAR
  ZNF75D CLINVAR
OMIM 300037 CLINVAR
  300107 CLINVAR
  300163 CLINVAR
  300199 CLINVAR
  300213 CLINVAR
  300231 CLINVAR
  300267 CLINVAR
  300296 CLINVAR
  300346 CLINVAR
  300359 CLINVAR
  300386 CLINVAR
  300393 CLINVAR
  300414 CLINVAR
  300583 CLINVAR
  300627 CLINVAR
  300648 CLINVAR
  300674 CLINVAR
  300682 CLINVAR
  300722 CLINVAR
  300792 CLINVAR
  300793 CLINVAR
  300794 CLINVAR
  300796 CLINVAR
  300797 CLINVAR
  300865 CLINVAR
  300930 CLINVAR
  300950 CLINVAR
  308000 CLINVAR
  314997 CLINVAR