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rs80357548

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357548(-;-)
Make rs80357548(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43082412
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357548
ebirs80357548
HLIrs80357548
Exacrs80357548
Varsomers80357548
Maprs80357548
PheGenIrs80357548
hapmaprs80357548
1000 genomesrs80357548
hgdprs80357548
ensemblrs80357548
gopubmedrs80357548
geneviewrs80357548
scholarrs80357548
googlers80357548
pharmgkbrs80357548
gwascentralrs80357548
openSNPrs80357548
23andMers80357548
23andMe allrs80357548
SNP Nexus

SNPshotrs80357548
SNPdbers80357548
MSV3drs80357548
GWAS Ctlgrs80357548
Max Magnitude6
rs80357548, also known as 4467insT, c.4348_4349insT and p.Ser1450?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357548(T;T)
Alt rs80357548(T;T)
Reference rs80357548(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41234430dupA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000083051.3,