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rs80359260

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
(A;A) 0 common in clinvar


Make rs80359260(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332507
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359260
ebirs80359260
HLIrs80359260
Exacrs80359260
Varsomers80359260
Maprs80359260
PheGenIrs80359260
hapmaprs80359260
1000 genomesrs80359260
hgdprs80359260
ensemblrs80359260
gopubmedrs80359260
geneviewrs80359260
scholarrs80359260
googlers80359260
pharmgkbrs80359260
gwascentralrs80359260
openSNPrs80359260
23andMers80359260
23andMe allrs80359260
SNP Nexus

SNPshotrs80359260
SNPdbers80359260
MSV3drs80359260
GWAS Ctlgrs80359260
Max Magnitude6
rs80359260, also known as 1257delA, c.1029_1029delA and p.Lys343Asnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359260(;)
Alt rs80359260(;)
Reference rs80359260(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32906644delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031305.4, RCV000043732.2, RCV000165362.1, RCV000218354.1,