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rs80357720

From SNPedia

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


Make rs80357720(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063876
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357720
ebirs80357720
HLIrs80357720
Exacrs80357720
Varsomers80357720
Maprs80357720
PheGenIrs80357720
hapmaprs80357720
1000 genomesrs80357720
hgdprs80357720
ensemblrs80357720
gopubmedrs80357720
geneviewrs80357720
scholarrs80357720
googlers80357720
pharmgkbrs80357720
gwascentralrs80357720
openSNPrs80357720
23andMers80357720
23andMe allrs80357720
SNP Nexus

SNPshotrs80357720
SNPdbers80357720
MSV3drs80357720
GWAS Ctlgrs80357720
Max Magnitude6
rs80357720, also known as 5269delT, c.5150_5150delT and p.Phe1717Serfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357720(;)
Alt rs80357720(;)
Reference rs80357720(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.41215893delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048818.2, RCV000112511.1,