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rs80357841

From SNPedia

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


Make rs80357841(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092423
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357841
ebirs80357841
HLIrs80357841
Exacrs80357841
Varsomers80357841
Maprs80357841
PheGenIrs80357841
hapmaprs80357841
1000 genomesrs80357841
hgdprs80357841
ensemblrs80357841
gopubmedrs80357841
geneviewrs80357841
scholarrs80357841
googlers80357841
pharmgkbrs80357841
gwascentralrs80357841
openSNPrs80357841
23andMers80357841
23andMe allrs80357841
SNP Nexus

SNPshotrs80357841
SNPdbers80357841
MSV3drs80357841
GWAS Ctlgrs80357841
Max Magnitude6
rs80357841, also known as 3227delT, c.3108_3108delT and p.Phe1036Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357841(;)
Alt rs80357841(;)
Reference rs80357841(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.41244440delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048071.2, RCV000112000.1,