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

rs80357668

From SNPedia

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


Make rs80357668(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093355
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357668
ebirs80357668
HLIrs80357668
Exacrs80357668
Varsomers80357668
Maprs80357668
PheGenIrs80357668
hapmaprs80357668
1000 genomesrs80357668
hgdprs80357668
ensemblrs80357668
gopubmedrs80357668
geneviewrs80357668
scholarrs80357668
googlers80357668
pharmgkbrs80357668
gwascentralrs80357668
openSNPrs80357668
23andMers80357668
23andMe allrs80357668
SNP Nexus

SNPshotrs80357668
SNPdbers80357668
MSV3drs80357668
GWAS Ctlgrs80357668
Max Magnitude6
rs80357668, also known as 2295delC, c.2176_2176delC and p.Leu726Phefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357668(;)
Alt rs80357668(;)
Reference rs80357668(C;C)
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.41245372delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047744.2, RCV000077508.3,