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

rs80357627

From SNPedia

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


Make rs80357627(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092579
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357627
ebirs80357627
HLIrs80357627
Exacrs80357627
Varsomers80357627
Maprs80357627
PheGenIrs80357627
hapmaprs80357627
1000 genomesrs80357627
hgdprs80357627
ensemblrs80357627
gopubmedrs80357627
geneviewrs80357627
scholarrs80357627
googlers80357627
pharmgkbrs80357627
gwascentralrs80357627
openSNPrs80357627
23andMers80357627
23andMe allrs80357627
SNP Nexus

SNPshotrs80357627
SNPdbers80357627
MSV3drs80357627
GWAS Ctlgrs80357627
Max Magnitude6
rs80357627, also known as 3071delT, c.2952_2952delT and p.Phe984=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357627(;)
Alt rs80357627(;)
Reference rs80357627(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.41244596delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048021.2, RCV000111971.1,