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rs80357723

From SNPedia

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


Make rs80357723(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093774
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357723
ebirs80357723
HLIrs80357723
Exacrs80357723
Varsomers80357723
Maprs80357723
PheGenIrs80357723
hapmaprs80357723
1000 genomesrs80357723
hgdprs80357723
ensemblrs80357723
gopubmedrs80357723
geneviewrs80357723
scholarrs80357723
googlers80357723
pharmgkbrs80357723
gwascentralrs80357723
openSNPrs80357723
23andMers80357723
23andMe allrs80357723
SNP Nexus

SNPshotrs80357723
SNPdbers80357723
MSV3drs80357723
GWAS Ctlgrs80357723
Max Magnitude6
rs80357723, also known as 1876delC, c.1757_1757delC and p.Pro586Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357723(;)
Alt rs80357723(;)
Reference rs80357723(C;C)
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.41245791delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047578.2, RCV000111675.1, RCV000132331.2,