Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357827

From SNPedia

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


Make rs80357827(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092174
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357827
ebirs80357827
HLIrs80357827
Exacrs80357827
Varsomers80357827
Maprs80357827
PheGenIrs80357827
hapmaprs80357827
1000 genomesrs80357827
hgdprs80357827
ensemblrs80357827
gopubmedrs80357827
geneviewrs80357827
scholarrs80357827
googlers80357827
pharmgkbrs80357827
gwascentralrs80357827
openSNPrs80357827
23andMers80357827
23andMe allrs80357827
SNP Nexus

SNPshotrs80357827
SNPdbers80357827
MSV3drs80357827
GWAS Ctlgrs80357827
Max Magnitude6
rs80357827, also known as 3476delT, c.3357_3357delT and p.Thr1119=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357827(;)
Alt rs80357827(;)
Reference rs80357827(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244191delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112079.1,