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rs80357751

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;C) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357751(-;-)
Make rs80357751(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43051066
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357751
ebirs80357751
HLIrs80357751
Exacrs80357751
Varsomers80357751
Maprs80357751
PheGenIrs80357751
hapmaprs80357751
1000 genomesrs80357751
hgdprs80357751
ensemblrs80357751
gopubmedrs80357751
geneviewrs80357751
scholarrs80357751
googlers80357751
pharmgkbrs80357751
gwascentralrs80357751
openSNPrs80357751
23andMers80357751
23andMe allrs80357751
SNP Nexus

SNPshotrs80357751
SNPdbers80357751
MSV3drs80357751
GWAS Ctlgrs80357751
Max Magnitude6
rs80357751, also known as 5447insC, c.5328_5329insC and p.Pro1776_Thr1777?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357751(C;C)
Alt rs80357751(C;C)
Reference rs80357751(;)
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.41203084dupG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048932.2, RCV000112612.1,