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rs80357571

From SNPedia

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


Make rs80357571(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091905
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357571
ebirs80357571
HLIrs80357571
Exacrs80357571
Varsomers80357571
Maprs80357571
PheGenIrs80357571
hapmaprs80357571
1000 genomesrs80357571
hgdprs80357571
ensemblrs80357571
gopubmedrs80357571
geneviewrs80357571
scholarrs80357571
googlers80357571
pharmgkbrs80357571
gwascentralrs80357571
openSNPrs80357571
23andMers80357571
23andMe allrs80357571
SNP Nexus

SNPshotrs80357571
SNPdbers80357571
MSV3drs80357571
GWAS Ctlgrs80357571
Max Magnitude6
rs80357571, also known as 3745delT, c.3626_3626delT and p.Leu1209Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357571(;)
Alt rs80357571(;)
Reference rs80357571(T;T)
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.41243922delA
CLNSRC Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC RCV000048261.2, RCV000112140.3,