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

rs80357753

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357753(-;-)
Make rs80357753(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093577
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357753
ebirs80357753
HLIrs80357753
Exacrs80357753
Varsomers80357753
Maprs80357753
PheGenIrs80357753
hapmaprs80357753
1000 genomesrs80357753
hgdprs80357753
ensemblrs80357753
gopubmedrs80357753
geneviewrs80357753
scholarrs80357753
googlers80357753
pharmgkbrs80357753
gwascentralrs80357753
openSNPrs80357753
23andMers80357753
23andMe allrs80357753
SNP Nexus

SNPshotrs80357753
SNPdbers80357753
MSV3drs80357753
GWAS Ctlgrs80357753
Max Magnitude6
rs80357753, also known as 2072insG, c.1953_1954insG and p.Lys651_Lys652?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357753(G;G)
Alt rs80357753(G;G)
Reference rs80357753(;)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41245595dupC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047654.2, RCV000111739.1, RCV000222152.1,