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rs80357951

From SNPedia

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


Make rs80357951(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43115730
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357951
ebirs80357951
HLIrs80357951
Exacrs80357951
Varsomers80357951
Maprs80357951
PheGenIrs80357951
hapmaprs80357951
1000 genomesrs80357951
hgdprs80357951
ensemblrs80357951
gopubmedrs80357951
geneviewrs80357951
scholarrs80357951
googlers80357951
pharmgkbrs80357951
gwascentralrs80357951
openSNPrs80357951
23andMers80357951
23andMe allrs80357951
SNP Nexus

SNPshotrs80357951
SNPdbers80357951
MSV3drs80357951
GWAS Ctlgrs80357951
Max Magnitude6
rs80357951, also known as 249delT, c.130_130delT and p.Cys44Alafs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357951(;)
Alt rs80357951(;)
Reference rs80357951(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.41267747delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047412.2, RCV000077485.3,