RGD:13493112 Rat Genome Database

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Variant: RGD:13493112 -  Homo sapiens

RGD ID: 13493112
RS ID: rs1283205861
ClinVar ID: CV476922
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BRCA2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 13 32,950,804
GRCh38 13 32,376,667
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000059.3:c.8633-3T>G
LRG_293t1:c.8633-3T>G
LRG_293:g.66188T>G
NG_012772.3:g.66188T>G
More... 		11/05/2021 intron variant likely benign|uncertain significance Breast and ovarian cancer; 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; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:BRCA2
Accession:NM_001406719
Location:INTRON

Gene Symbol:BRCA2
Accession:NM_001406722
Location:INTRON

Gene Symbol:BRCA2
Accession:NM_001406720
Location:INTRON

Gene Symbol:BRCA2
Accession:NM_001406721
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000570857 CLINVAR
  RCV000637389 CLINVAR
dbSNP (RS) rs1283205861 CLINVAR
MedGen C0027672 CLINVAR
  C0677776 CLINVAR
NCBI Gene BRCA2 CLINVAR
OMIM 600185 CLINVAR
SNOMED CT 699346009 CLINVAR