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rs80357916

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;C) 6 BRCA1 variant considered pathogenic for breast cancer
(C;C) 0 Normal


Make rs80357916(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43076581
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357916
ebirs80357916
HLIrs80357916
Exacrs80357916
Varsomers80357916
Maprs80357916
PheGenIrs80357916
hapmaprs80357916
1000 genomesrs80357916
hgdprs80357916
ensemblrs80357916
gopubmedrs80357916
geneviewrs80357916
scholarrs80357916
googlers80357916
pharmgkbrs80357916
gwascentralrs80357916
openSNPrs80357916
23andMers80357916
23andMe allrs80357916
SNP Nexus

SNPshotrs80357916
SNPdbers80357916
MSV3drs80357916
GWAS Ctlgrs80357916
Max Magnitude6
rs80357916, also known as 4510delC, c.4391_4391delC and p.Pro1464Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357916(;)
Alt rs80357916(;)
Reference rs80357916(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41228598delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031170.4, RCV000048547.2,