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rs80357594

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs80357594(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092822
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357594
ebirs80357594
HLIrs80357594
Exacrs80357594
Varsomers80357594
Maprs80357594
PheGenIrs80357594
hapmaprs80357594
1000 genomesrs80357594
hgdprs80357594
ensemblrs80357594
gopubmedrs80357594
geneviewrs80357594
scholarrs80357594
googlers80357594
pharmgkbrs80357594
gwascentralrs80357594
openSNPrs80357594
23andMers80357594
23andMe allrs80357594
SNP Nexus

SNPshotrs80357594
SNPdbers80357594
MSV3drs80357594
GWAS Ctlgrs80357594
Max Magnitude6
rs80357594, also known as 2828delT, c.2709_2709delT and p.Cys903Trpfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357594(;)
Alt rs80357594(;)
Reference rs80357594(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.41244839delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047939.2, RCV000111922.1,