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rs80357881

From SNPedia

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


Make rs80357881(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104220
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357881
ebirs80357881
HLIrs80357881
Exacrs80357881
Varsomers80357881
Maprs80357881
PheGenIrs80357881
hapmaprs80357881
1000 genomesrs80357881
hgdprs80357881
ensemblrs80357881
gopubmedrs80357881
geneviewrs80357881
scholarrs80357881
googlers80357881
pharmgkbrs80357881
gwascentralrs80357881
openSNPrs80357881
23andMers80357881
23andMe allrs80357881
SNP Nexus

SNPshotrs80357881
SNPdbers80357881
MSV3drs80357881
GWAS Ctlgrs80357881
Max Magnitude6
rs80357881, also known as 461delTC, c.342_343delTC and p.Ser114_Pro115SerTerfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357881(;)
Alt rs80357881(;)
Reference rs80357881(TC;TC)
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.41256237_41256238delGA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048194.2, RCV000112349.1,