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rs80357646

From SNPedia

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


Make rs80357646(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091629
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357646
ebirs80357646
HLIrs80357646
Exacrs80357646
Varsomers80357646
Maprs80357646
PheGenIrs80357646
hapmaprs80357646
1000 genomesrs80357646
hgdprs80357646
ensemblrs80357646
gopubmedrs80357646
geneviewrs80357646
scholarrs80357646
googlers80357646
pharmgkbrs80357646
gwascentralrs80357646
openSNPrs80357646
23andMers80357646
23andMe allrs80357646
SNP Nexus

SNPshotrs80357646
SNPdbers80357646
MSV3drs80357646
GWAS Ctlgrs80357646
Max Magnitude6
rs80357646, also known as 4020delAG, c.3901_3902delAG and p.Ser1301Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357646(;)
Alt rs80357646(;)
Reference rs80357646(AG;AG)
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.41243646_41243647delCT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048373.2, RCV000077558.3,