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rs80357798

From SNPedia

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


Make rs80357798(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43091754
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357798
ebirs80357798
HLIrs80357798
Exacrs80357798
Varsomers80357798
Maprs80357798
PheGenIrs80357798
hapmaprs80357798
1000 genomesrs80357798
hgdprs80357798
ensemblrs80357798
gopubmedrs80357798
geneviewrs80357798
scholarrs80357798
googlers80357798
pharmgkbrs80357798
gwascentralrs80357798
openSNPrs80357798
23andMers80357798
23andMe allrs80357798
SNP Nexus

SNPshotrs80357798
SNPdbers80357798
MSV3drs80357798
GWAS Ctlgrs80357798
Max Magnitude6
rs80357798, also known as 3986delT, c.3777_3777delT and p.Asn1259=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357798(;)
Alt rs80357798(;)
Reference rs80357798(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.41243769delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048329.2, RCV000112182.1,