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rs80358047

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 Normal
Make rs80358047(A;A)
Make rs80358047(A;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43099773
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80358047
ebirs80358047
HLIrs80358047
Exacrs80358047
Varsomers80358047
Maprs80358047
PheGenIrs80358047
hapmaprs80358047
1000 genomesrs80358047
hgdprs80358047
ensemblrs80358047
gopubmedrs80358047
geneviewrs80358047
scholarrs80358047
googlers80358047
pharmgkbrs80358047
gwascentralrs80358047
openSNPrs80358047
23andMers80358047
23andMe allrs80358047
SNP Nexus

SNPshotrs80358047
SNPdbers80358047
MSV3drs80358047
GWAS Ctlgrs80358047
Max Magnitude0

rs80358047, also known as c.547+2T>A, is a mutation in the BRCA1 gene reported by multiple sources to be clinically significant (in terms of pathogenicity) for breast cancer.ClinVar


ClinVar
Risk rs80358047(A;A)
Alt rs80358047(A;A)
Reference rs80358047(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41251790A>T
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031255.6, RCV000034759.1, RCV000049009.2,