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rs80357741

From SNPedia

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


Make rs80357741(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092597
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357741
ebirs80357741
HLIrs80357741
Exacrs80357741
Varsomers80357741
Maprs80357741
PheGenIrs80357741
hapmaprs80357741
1000 genomesrs80357741
hgdprs80357741
ensemblrs80357741
gopubmedrs80357741
geneviewrs80357741
scholarrs80357741
googlers80357741
pharmgkbrs80357741
gwascentralrs80357741
openSNPrs80357741
23andMers80357741
23andMe allrs80357741
SNP Nexus

SNPshotrs80357741
SNPdbers80357741
MSV3drs80357741
GWAS Ctlgrs80357741
Max Magnitude6
rs80357741, also known as 3053delT, c.2934_2934delT and p.Tyr978=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357741(;)
Alt rs80357741(;)
Reference rs80357741(T;T)
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.41244614delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048018.2, RCV000111969.1, RCV000214786.1,