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rs80357644

From SNPedia

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


Make rs80357644(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094608
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357644
ebirs80357644
HLIrs80357644
Exacrs80357644
Varsomers80357644
Maprs80357644
PheGenIrs80357644
hapmaprs80357644
1000 genomesrs80357644
hgdprs80357644
ensemblrs80357644
gopubmedrs80357644
geneviewrs80357644
scholarrs80357644
googlers80357644
pharmgkbrs80357644
gwascentralrs80357644
openSNPrs80357644
23andMers80357644
23andMe allrs80357644
SNP Nexus

SNPshotrs80357644
SNPdbers80357644
MSV3drs80357644
GWAS Ctlgrs80357644
Max Magnitude6
rs80357644, also known as 1041delAG, c.922_923delAG and p.Ser308Glnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357644(;)
Alt rs80357644(;)
Reference rs80357644(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.41246625_41246626delCT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049187.2, RCV000111510.1,