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rs80359301

From SNPedia

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


Make rs80359301(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333232
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359301
ebirs80359301
HLIrs80359301
Exacrs80359301
Varsomers80359301
Maprs80359301
PheGenIrs80359301
hapmaprs80359301
1000 genomesrs80359301
hgdprs80359301
ensemblrs80359301
gopubmedrs80359301
geneviewrs80359301
scholarrs80359301
googlers80359301
pharmgkbrs80359301
gwascentralrs80359301
openSNPrs80359301
23andMers80359301
23andMe allrs80359301
SNP Nexus

SNPshotrs80359301
SNPdbers80359301
MSV3drs80359301
GWAS Ctlgrs80359301
Max Magnitude6
rs80359301, also known as 1982delA, c.1754_1754delA and p.Lys585Argfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359301(;)
Alt rs80359301(;)
Reference rs80359301(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 not provided
Reversed 0
HGVS NC_000013.10:g.32907369delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043873.4, RCV000077262.3, RCV000212214.1,