GRCh38/hg38 21q22.3(chr21:44502542-44720113)x1Rat Genome Database
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Variant : CV158608 (GRCh38/hg38 21q22.3(chr21:44502542-44720113)x1) Homo sapiens

Symbol: CV158608
Name: GRCh38/hg38 21q22.3(chr21:44502542-44720113)x1
RGD ID: 9485473
Condition: See cases [RCV000137922]
Clinical Significance: uncertain significance
Last Evaluated: 11/04/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: KRTAP10-1   KRTAP10-10   KRTAP10-11   KRTAP10-12   KRTAP10-2   KRTAP10-3   KRTAP10-4   KRTAP10-5   KRTAP10-6   KRTAP10-7   KRTAP10-8   KRTAP10-9   KRTAP12-1   KRTAP12-2   KRTAP12-3   KRTAP12-4   LOC112694751   TSPEAR   TSPEAR-AS1   TSPEAR-AS2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_44502542)_(44720113_?)del
NW_004775435.1:g.(?_5865)_(223434_?)del
NC_000021.7:g.(?_44746853)_(44964456_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,502,542 - 44,720,113CLINVAR
Build 362144,746,853 - 44,964,456CLINVAR
Cytogenetic Map2121q22.3CLINVAR



Additional References at PubMed
PMID:20466091  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000137922 CLINVAR
NCBI Gene 112694751 CLINVAR
  KRTAP10-1 CLINVAR
  KRTAP10-10 CLINVAR
  KRTAP10-11 CLINVAR
  KRTAP10-12 CLINVAR
  KRTAP10-2 CLINVAR
  KRTAP10-3 CLINVAR
  KRTAP10-4 CLINVAR
  KRTAP10-5 CLINVAR
  KRTAP10-6 CLINVAR
  KRTAP10-7 CLINVAR
  KRTAP10-8 CLINVAR
  KRTAP10-9 CLINVAR
  KRTAP12-1 CLINVAR
  KRTAP12-2 CLINVAR
  KRTAP12-3 CLINVAR
  KRTAP12-4 CLINVAR
  TSPEAR CLINVAR
  TSPEAR-AS1 CLINVAR
  TSPEAR-AS2 CLINVAR
OMIM 612920 CLINVAR