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rs80357929

From SNPedia

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


Make rs80357929(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092663
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357929
ebirs80357929
HLIrs80357929
Exacrs80357929
Varsomers80357929
Maprs80357929
PheGenIrs80357929
hapmaprs80357929
1000 genomesrs80357929
hgdprs80357929
ensemblrs80357929
gopubmedrs80357929
geneviewrs80357929
scholarrs80357929
googlers80357929
pharmgkbrs80357929
gwascentralrs80357929
openSNPrs80357929
23andMers80357929
23andMe allrs80357929
SNP Nexus

SNPshotrs80357929
SNPdbers80357929
MSV3drs80357929
GWAS Ctlgrs80357929
Max Magnitude6
rs80357929, also known as 2987delT, c.2868_2868delT and p.Ser956=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357929(;)
Alt rs80357929(;)
Reference rs80357929(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244680delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111952.2,