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rs80357687

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357687(-;-)
Make rs80357687(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091771
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357687
ebirs80357687
HLIrs80357687
Exacrs80357687
Varsomers80357687
Maprs80357687
PheGenIrs80357687
hapmaprs80357687
1000 genomesrs80357687
hgdprs80357687
ensemblrs80357687
gopubmedrs80357687
geneviewrs80357687
scholarrs80357687
googlers80357687
pharmgkbrs80357687
gwascentralrs80357687
openSNPrs80357687
23andMers80357687
23andMe allrs80357687
SNP Nexus

SNPshotrs80357687
SNPdbers80357687
MSV3drs80357687
GWAS Ctlgrs80357687
Max Magnitude6
rs80357687, also known as 3878insT, c.3759_3760insT and p.Ser1253_Lys1254?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357687(T;T)
Alt rs80357687(T;T)
Reference rs80357687(;)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41243789dupA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048318.2, RCV000077130.3, RCV000164495.1,