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rs80359578

From SNPedia

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


Make rs80359578(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340728
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359578
ebirs80359578
HLIrs80359578
Exacrs80359578
Varsomers80359578
Maprs80359578
PheGenIrs80359578
hapmaprs80359578
1000 genomesrs80359578
hgdprs80359578
ensemblrs80359578
gopubmedrs80359578
geneviewrs80359578
scholarrs80359578
googlers80359578
pharmgkbrs80359578
gwascentralrs80359578
openSNPrs80359578
23andMers80359578
23andMe allrs80359578
SNP Nexus

SNPshotrs80359578
SNPdbers80359578
MSV3drs80359578
GWAS Ctlgrs80359578
Max Magnitude6
rs80359578, also known as 6601delA, c.6373_6373delA and p.Thr2125Profs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359578(;)
Alt rs80359578(;)
Reference rs80359578(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.32914865delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044925.2, RCV000077372.3, RCV000217749.1,