Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357065

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 3 BRCA1 variant of unclear significance
(T;T) 0 common in clinvar


Make rs80357065(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43049168
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357065
ebirs80357065
HLIrs80357065
Exacrs80357065
Varsomers80357065
Maprs80357065
PheGenIrs80357065
hapmaprs80357065
1000 genomesrs80357065
hgdprs80357065
ensemblrs80357065
gopubmedrs80357065
geneviewrs80357065
scholarrs80357065
googlers80357065
pharmgkbrs80357065
gwascentralrs80357065
openSNPrs80357065
23andMers80357065
23andMe allrs80357065
SNP Nexus

SNPshotrs80357065
SNPdbers80357065
MSV3drs80357065
GWAS Ctlgrs80357065
Max Magnitude3

c.5359T>A (p.Cys1787Ser)

Clinical significance in ClinVar: untested

ClinVar
Risk rs80357065(A;A)
Alt rs80357065(A;A)
Reference rs80357065(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41201185A>T
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation
CLNACC RCV000048957.2, RCV000077619.5,