RGD:28911249 Rat Genome Database

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Variant: RGD:28911249 -  Homo sapiens

RGD ID: 28911249
RS ID: rs868342410
ClinVar ID: CV871076
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BRCA2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 32,973,178
GRCh38 13 32,399,041
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_293t1:c.*271C>A
NM_000059.4:c.*271C>A
LRG_293:g.88562C>A
NG_012772.3:g.88562C>A
More... 		01/12/2018 3 prime utr variant uncertain significance Breast-ovarian cancer, familial 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BRCA2
Accession:NM_001406720
Location:3UTRS;EXON

Gene Symbol:BRCA2
Accession:NM_001406719
Location:3UTRS;EXON

Gene Symbol:BRCA2
Accession:NM_000059
Location:3UTRS;EXON

Gene Symbol:BRCA2
Accession:NM_001406721
Location:3UTRS;EXON

Gene Symbol:BRCA2
Accession:NM_001406722
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001110234 CLINVAR
  RCV001110235 CLINVAR
dbSNP (RS) rs868342410 CLINVAR
MedGen C1838457 CLINVAR
  C2675520 CLINVAR
NCBI Gene BRCA2 CLINVAR
OMIM 600185 CLINVAR
  605724 CLINVAR
  612555 CLINVAR