RGD:8594676 Rat Genome Database

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Variant: RGD:8594676 -  Homo sapiens

RGD ID: 8594676
RS ID: rs9534262
ClinVar ID: CV131696
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BRCA2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 32,936,646
GRCh38 13 32,362,509
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_293t1:c.7806-14T>C
LRG_293:g.52030T>C
NG_012772.3:g.52030T>C
NC_000013.11:g.32362509T>C
More... 		03/06/2019 intron|intron variant benign|not provided all ages|variable 1-5 / 10 000|1-9 / 100 000|http://www.ncbi.nlm.nih.gov/books/nbk1247/ AllHighlyPenetrant; Breast and ovarian cancer; Breast cancer, familial; Breast-ovarian cancer, familial 2; Cancer predisposition; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer syndrome (HBOC); Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition

Variant Details
Variant Transcripts
Gene Symbol:BRCA2
Accession:NM_001406722
Location:INTRON

Gene Symbol:BRCA2
Accession:NM_001406719
Location:INTRON

Gene Symbol:BRCA2
Accession:NM_001406721
Location:INTRON

Gene Symbol:BRCA2
Accession:NM_000059
Location:INTRON

Gene Symbol:BRCA2
Accession:NM_001406720
Location:INTRON

Gene Symbol:BRCA2
Accession:NR_176251
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000113823 CLINVAR
  RCV000132168 CLINVAR
  RCV000152883 CLINVAR
  RCV000331967 CLINVAR
  RCV000386451 CLINVAR
  RCV000459462 CLINVAR
  RCV001798289 CLINVAR
  RCV001811402 CLINVAR
dbSNP (RS) rs9534262 CLINVAR
MedGen C0027672 CLINVAR
  C0346153 CLINVAR
  C0677776 CLINVAR
  C1838457 CLINVAR
  C2675520 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN221562 CLINVAR
NCBI Gene BRCA2 CLINVAR
OMIM 114480 CLINVAR
  600185 CLINVAR
  605724 CLINVAR
  612555 CLINVAR
SNOMED CT 254843006 CLINVAR
  699346009 CLINVAR