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rs80359491

From SNPedia

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


Make rs80359491(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339535
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359491
ebirs80359491
HLIrs80359491
Exacrs80359491
Varsomers80359491
Maprs80359491
PheGenIrs80359491
hapmaprs80359491
1000 genomesrs80359491
hgdprs80359491
ensemblrs80359491
gopubmedrs80359491
geneviewrs80359491
scholarrs80359491
googlers80359491
pharmgkbrs80359491
gwascentralrs80359491
openSNPrs80359491
23andMers80359491
23andMe allrs80359491
SNP Nexus

SNPshotrs80359491
SNPdbers80359491
MSV3drs80359491
GWAS Ctlgrs80359491
Max Magnitude6
rs80359491, also known as 5408delA, c.5180_5180delA and p.Asn1727Metfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359491(;)
Alt rs80359491(;)
Reference rs80359491(A;A)
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.32913672delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044594.2, RCV000113394.1,