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rs80357986

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357986(-;-)
Make rs80357986(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091770
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357986
ebirs80357986
HLIrs80357986
Exacrs80357986
Varsomers80357986
Maprs80357986
PheGenIrs80357986
hapmaprs80357986
1000 genomesrs80357986
hgdprs80357986
ensemblrs80357986
gopubmedrs80357986
geneviewrs80357986
scholarrs80357986
googlers80357986
pharmgkbrs80357986
gwascentralrs80357986
openSNPrs80357986
23andMers80357986
23andMe allrs80357986
SNP Nexus

SNPshotrs80357986
SNPdbers80357986
MSV3drs80357986
GWAS Ctlgrs80357986
Max Magnitude6
rs80357986, also known as 3879insT, c.3760_3761insT and p.Lys1254?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357986(T;T)
Alt rs80357986(T;T)
Reference rs80357986(;)
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.41243787_41243788insA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048321.2, RCV000112175.1,