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rs80357766

From SNPedia

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


Make rs80357766(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094255
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357766
ebirs80357766
HLIrs80357766
Exacrs80357766
Varsomers80357766
Maprs80357766
PheGenIrs80357766
hapmaprs80357766
1000 genomesrs80357766
hgdprs80357766
ensemblrs80357766
gopubmedrs80357766
geneviewrs80357766
scholarrs80357766
googlers80357766
pharmgkbrs80357766
gwascentralrs80357766
openSNPrs80357766
23andMers80357766
23andMe allrs80357766
SNP Nexus

SNPshotrs80357766
SNPdbers80357766
MSV3drs80357766
GWAS Ctlgrs80357766
Max Magnitude6
rs80357766, also known as 1395delT, c.1276_1276delT and p.Ser426Glnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357766(;)
Alt rs80357766(;)
Reference rs80357766(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.41246272delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047402.2, RCV000111580.1,