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rs80357953

From SNPedia

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


Make rs80357953(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094608
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357953
ebirs80357953
HLIrs80357953
Exacrs80357953
Varsomers80357953
Maprs80357953
PheGenIrs80357953
hapmaprs80357953
1000 genomesrs80357953
hgdprs80357953
ensemblrs80357953
gopubmedrs80357953
geneviewrs80357953
scholarrs80357953
googlers80357953
pharmgkbrs80357953
gwascentralrs80357953
openSNPrs80357953
23andMers80357953
23andMe allrs80357953
SNP Nexus

SNPshotrs80357953
SNPdbers80357953
MSV3drs80357953
GWAS Ctlgrs80357953
Max Magnitude6
rs80357953, also known as 1042delG, c.923_923delG and p.Ser308Thrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357953(;)
Alt rs80357953(;)
Reference rs80357953(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed 1
HGVS NC_000017.10:g.41246625delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049189.2, RCV000111511.1, RCV000236025.1,