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rs80359401

From SNPedia

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


Make rs80359401(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338072
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359401
ebirs80359401
HLIrs80359401
Exacrs80359401
Varsomers80359401
Maprs80359401
PheGenIrs80359401
hapmaprs80359401
1000 genomesrs80359401
hgdprs80359401
ensemblrs80359401
gopubmedrs80359401
geneviewrs80359401
scholarrs80359401
googlers80359401
pharmgkbrs80359401
gwascentralrs80359401
openSNPrs80359401
23andMers80359401
23andMe allrs80359401
SNP Nexus

SNPshotrs80359401
SNPdbers80359401
MSV3drs80359401
GWAS Ctlgrs80359401
Max Magnitude6
rs80359401, also known as 3945delA, c.3717_3717delA and p.Lys1239Asnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359401(;)
Alt rs80359401(;)
Reference rs80359401(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32912209delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031436.6, RCV000044250.4, RCV000132471.2,