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rs80357928

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;TT) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357928(-;-)
Make rs80357928(TT;TT)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091769
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357928
ebirs80357928
HLIrs80357928
Exacrs80357928
Varsomers80357928
Maprs80357928
PheGenIrs80357928
hapmaprs80357928
1000 genomesrs80357928
hgdprs80357928
ensemblrs80357928
gopubmedrs80357928
geneviewrs80357928
scholarrs80357928
googlers80357928
pharmgkbrs80357928
gwascentralrs80357928
openSNPrs80357928
23andMers80357928
23andMe allrs80357928
SNP Nexus

SNPshotrs80357928
SNPdbers80357928
MSV3drs80357928
GWAS Ctlgrs80357928
Max Magnitude6
rs80357928, also known as 3880insTT, c.3761_3762insTT and p.Lys1254?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357928(TT;TT)
Alt rs80357928(TT;TT)
Reference rs80357928(;)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41243786_41243787insAA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000077131.4, RCV000123274.1, RCV000218701.1,