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rs80357553

From SNPedia

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


Make rs80357553(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063920
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357553
ebirs80357553
HLIrs80357553
Exacrs80357553
Varsomers80357553
Maprs80357553
PheGenIrs80357553
hapmaprs80357553
1000 genomesrs80357553
hgdprs80357553
ensemblrs80357553
gopubmedrs80357553
geneviewrs80357553
scholarrs80357553
googlers80357553
pharmgkbrs80357553
gwascentralrs80357553
openSNPrs80357553
23andMers80357553
23andMe allrs80357553
SNP Nexus

SNPshotrs80357553
SNPdbers80357553
MSV3drs80357553
GWAS Ctlgrs80357553
Max Magnitude6
rs80357553, also known as 5225delA, c.5106_5106delA and p.Lys1702Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357553(;)
Alt rs80357553(;)
Reference rs80357553(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41215937delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048796.2, RCV000112499.1, RCV000166104.1,