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rs80357612

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;C) 6 BRCA1 variant considered pathogenic for breast cancer
(C;C) 0 Normal


Make rs80357612(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094410
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357612
ebirs80357612
HLIrs80357612
Exacrs80357612
Varsomers80357612
Maprs80357612
PheGenIrs80357612
hapmaprs80357612
1000 genomesrs80357612
hgdprs80357612
ensemblrs80357612
gopubmedrs80357612
geneviewrs80357612
scholarrs80357612
googlers80357612
pharmgkbrs80357612
gwascentralrs80357612
openSNPrs80357612
23andMers80357612
23andMe allrs80357612
SNP Nexus

SNPshotrs80357612
SNPdbers80357612
MSV3drs80357612
GWAS Ctlgrs80357612
Max Magnitude6
rs80357612, also known as 1240delC, c.1121_1121delC and p.Thr374Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357612(;)
Alt rs80357612(;)
Reference rs80357612(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41246427delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000030972.4, RCV000047351.2,