RGD:12837037 Rat Genome Database

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Variant: RGD:12837037 -  Homo sapiens

RGD ID: 12837037
RS ID: rs769984654
ClinVar ID: CV372802
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BRCA2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 32,950,793
GRCh38 13 32,376,656
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_293t1:c.8633-14T>C
LRG_293:g.66177T>C
NG_012772.3:g.66177T>C
NC_000013.11:g.32376656T>C
More... 		12/14/2018 intron variant likely benign AllHighlyPenetrant; Breast and ovarian cancer; Cancer breast; 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; Malignant breast neoplasm; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:BRCA2
Accession:NM_000059
Location:INTRON

Gene Symbol:BRCA2
Accession:NM_001406721
Location:INTRON

Gene Symbol:BRCA2
Accession:NM_001406719
Location:INTRON

Gene Symbol:BRCA2
Accession:NM_001406720
Location:INTRON

Gene Symbol:BRCA2
Accession:NM_001406722
Location:INTRON

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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000424463 CLINVAR
  RCV000920185 CLINVAR
  RCV001180392 CLINVAR
  RCV001353750 CLINVAR
dbSNP (RS) rs769984654 CLINVAR
MedGen C0006142 CLINVAR
  C0027672 CLINVAR
  C0677776 CLINVAR
  CN169374 CLINVAR
NCBI Gene BRCA2 CLINVAR
OMIM 600185 CLINVAR
SNOMED CT 254837009 CLINVAR
  699346009 CLINVAR