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rs80357533

From SNPedia

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


Make rs80357533(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092245
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357533
ebirs80357533
HLIrs80357533
Exacrs80357533
Varsomers80357533
Maprs80357533
PheGenIrs80357533
hapmaprs80357533
1000 genomesrs80357533
hgdprs80357533
ensemblrs80357533
gopubmedrs80357533
geneviewrs80357533
scholarrs80357533
googlers80357533
pharmgkbrs80357533
gwascentralrs80357533
openSNPrs80357533
23andMers80357533
23andMe allrs80357533
SNP Nexus

SNPshotrs80357533
SNPdbers80357533
MSV3drs80357533
GWAS Ctlgrs80357533
Max Magnitude6
rs80357533, also known as 3405delC, c.3286_3286delC and p.Gln1096Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357533(;)
Alt rs80357533(;)
Reference rs80357533(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41244262delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048123.2, RCV000112046.1, RCV000217216.1,