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

rs80357901

From SNPedia

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


Make rs80357901(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093759
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357901
ebirs80357901
HLIrs80357901
Exacrs80357901
Varsomers80357901
Maprs80357901
PheGenIrs80357901
hapmaprs80357901
1000 genomesrs80357901
hgdprs80357901
ensemblrs80357901
gopubmedrs80357901
geneviewrs80357901
scholarrs80357901
googlers80357901
pharmgkbrs80357901
gwascentralrs80357901
openSNPrs80357901
23andMers80357901
23andMe allrs80357901
SNP Nexus

SNPshotrs80357901
SNPdbers80357901
MSV3drs80357901
GWAS Ctlgrs80357901
Max Magnitude6
rs80357901, also known as 1891delT, c.1772_1772delT and p.Ile591Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357901(;)
Alt rs80357901(;)
Reference rs80357901(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.41245776delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047581.2, RCV000111678.2,