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rs80357725

From SNPedia

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


Make rs80357725(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093202
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357725
ebirs80357725
HLIrs80357725
Exacrs80357725
Varsomers80357725
Maprs80357725
PheGenIrs80357725
hapmaprs80357725
1000 genomesrs80357725
hgdprs80357725
ensemblrs80357725
gopubmedrs80357725
geneviewrs80357725
scholarrs80357725
googlers80357725
pharmgkbrs80357725
gwascentralrs80357725
openSNPrs80357725
23andMers80357725
23andMe allrs80357725
SNP Nexus

SNPshotrs80357725
SNPdbers80357725
MSV3drs80357725
GWAS Ctlgrs80357725
Max Magnitude6
rs80357725, also known as 2448delT, c.2329_2329delT and p.Tyr777Metfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357725(;)
Alt rs80357725(;)
Reference rs80357725(T;T)
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.41245219delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047801.2, RCV000111826.1, RCV000131932.2,