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

rs80357544

From SNPedia

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


Make rs80357544(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104242
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357544
ebirs80357544
HLIrs80357544
Exacrs80357544
Varsomers80357544
Maprs80357544
PheGenIrs80357544
hapmaprs80357544
1000 genomesrs80357544
hgdprs80357544
ensemblrs80357544
gopubmedrs80357544
geneviewrs80357544
scholarrs80357544
googlers80357544
pharmgkbrs80357544
gwascentralrs80357544
openSNPrs80357544
23andMers80357544
23andMe allrs80357544
SNP Nexus

SNPshotrs80357544
SNPdbers80357544
MSV3drs80357544
GWAS Ctlgrs80357544
Max Magnitude6
rs80357544, also known as 440delT, c.321_321delT and p.Phe107Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357544(;)
Alt rs80357544(;)
Reference rs80357544(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.41256259delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048102.2, RCV000112310.1,