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rs80359312

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359312(-;-)
Make rs80359312(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333320
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359312
ebirs80359312
HLIrs80359312
Exacrs80359312
Varsomers80359312
Maprs80359312
PheGenIrs80359312
hapmaprs80359312
1000 genomesrs80359312
hgdprs80359312
ensemblrs80359312
gopubmedrs80359312
geneviewrs80359312
scholarrs80359312
googlers80359312
pharmgkbrs80359312
gwascentralrs80359312
openSNPrs80359312
23andMers80359312
23andMe allrs80359312
SNP Nexus

SNPshotrs80359312
SNPdbers80359312
MSV3drs80359312
GWAS Ctlgrs80359312
Max Magnitude6
rs80359312, also known as 2070insT, c.1842_1843insT and p.Ile614_Asn615?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359312(T;T)
Alt rs80359312(T;T)
Reference rs80359312(;)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32907457dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043907.2, RCV000112985.2,