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rs80357641

From SNPedia

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


Make rs80357641(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43071164
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357641
ebirs80357641
HLIrs80357641
Exacrs80357641
Varsomers80357641
Maprs80357641
PheGenIrs80357641
hapmaprs80357641
1000 genomesrs80357641
hgdprs80357641
ensemblrs80357641
gopubmedrs80357641
geneviewrs80357641
scholarrs80357641
googlers80357641
pharmgkbrs80357641
gwascentralrs80357641
openSNPrs80357641
23andMers80357641
23andMe allrs80357641
SNP Nexus

SNPshotrs80357641
SNPdbers80357641
MSV3drs80357641
GWAS Ctlgrs80357641
Max Magnitude6
rs80357641, also known as 4868delAG, c.4749_4750delAG and p.Arg1583_Ala1584SerProfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357641(;)
Alt rs80357641(;)
Reference rs80357641(AG;AG)
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.41223181_41223182delCT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031190.4, RCV000048650.2,