GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3Rat Genome Database

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Variant : CV437446 (GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3) Homo sapiens

Symbol: CV437446
Name: GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3
RGD ID: 13444216
Condition: See cases [RCV000511241]
Clinical Significance: uncertain significance
Last Evaluated: 05/22/2013
Review Status: no assertion criteria provided
Related Genes: ACO2   CCDC134   CENPM   CSDC2   CYP2D6   DESI1   MEI1   MIR33A   NAGA   NDUFA6   PHETA2   PHF5A   PMM1   POLR3H   SEPTIN3   SHISA8   SMDT1   SNU13   SREBF2   TCF20   TNFRSF13C   TOB2   WBP2NL   XRCC6  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372241,835,094 - 42,756,616CLINVAR
Cytogenetic Map2222q13.2CLINVAR



Additional References at PubMed
PMID:20466091  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000511241 CLINVAR
NCBI Gene ACO2 CLINVAR
  CCDC134 CLINVAR
  CENPM CLINVAR
  CSDC2 CLINVAR
  CYP2D6 CLINVAR
  DESI1 CLINVAR
  FAM109B CLINVAR
  MEI1 CLINVAR
  MIR33A CLINVAR
  NAGA CLINVAR
  NDUFA6 CLINVAR
  PHF5A CLINVAR
  PMM1 CLINVAR
  POLR3H CLINVAR
  SEPT3 CLINVAR
  SHISA8 CLINVAR
  SMDT1 CLINVAR
  SNU13 CLINVAR
  SREBF2 CLINVAR
  TCF20 CLINVAR
  TNFRSF13C CLINVAR
  TOB2 CLINVAR
  WBP2NL CLINVAR
  XRCC6 CLINVAR
OMIM 100850 CLINVAR
  104170 CLINVAR
  124030 CLINVAR
  152690 CLINVAR
  600481 CLINVAR
  601304 CLINVAR
  601786 CLINVAR
  602138 CLINVAR
  603107 CLINVAR
  606269 CLINVAR
  607396 CLINVAR
  608314 CLINVAR
  608797 CLINVAR
  610152 CLINVAR
  610981 CLINVAR
  612156 CLINVAR
  614240 CLINVAR
  614637 CLINVAR
  615588 CLINVAR
  617329 CLINVAR
  617689 CLINVAR
  617846 CLINVAR
  618788 CLINVAR