GRCh38/hg38 21q22.13(chr21:37001929-37339004)x1Rat Genome Database
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Variant : CV159029 (GRCh38/hg38 21q22.13(chr21:37001929-37339004)x1) Homo sapiens

Symbol: CV159029
Name: GRCh38/hg38 21q22.13(chr21:37001929-37339004)x1
RGD ID: 9485877
Condition: See cases [RCV000138328]
Clinical Significance: likely benign
Last Evaluated: 10/24/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: DSCR9   LOC111556145   PIGP   RIPPLY3   TTC3   TTC3-AS1   VPS26C  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_37001929)_(37339004_?)del
NC_000021.8:g.(?_38374229)_(38711306_?)del
NC_000021.7:g.(?_37296099)_(37633176_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382137,001,929 - 37,339,004CLINVAR
GRCh372138,374,229 - 38,711,306CLINVAR
Build 362137,296,099 - 37,633,176CLINVAR
Cytogenetic Map2121q22.13CLINVAR



Additional References at PubMed
PMID:20466091  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000138328 CLINVAR
NCBI Gene 105372795 CLINVAR
  111556145 CLINVAR
  DSCR3 CLINVAR
  DSCR9 CLINVAR
  PIGP CLINVAR
  RIPPLY3 CLINVAR
  TTC3 CLINVAR
  TTC3-AS1 CLINVAR
OMIM 602259 CLINVAR
  605298 CLINVAR
  605938 CLINVAR
  609892 CLINVAR