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rs80357556

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;C) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357556(-;-)
Make rs80357556(C;C)
ReferenceGRCh38 38.1/142
Chromosome17
Position43082471
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357556
ebirs80357556
HLIrs80357556
Exacrs80357556
Varsomers80357556
Maprs80357556
PheGenIrs80357556
hapmaprs80357556
1000 genomesrs80357556
hgdprs80357556
ensemblrs80357556
gopubmedrs80357556
geneviewrs80357556
scholarrs80357556
googlers80357556
pharmgkbrs80357556
gwascentralrs80357556
openSNPrs80357556
23andMers80357556
23andMe allrs80357556
SNP Nexus

SNPshotrs80357556
SNPdbers80357556
MSV3drs80357556
GWAS Ctlgrs80357556
Max Magnitude6
rs80357556, also known as 4408insC, c.4289_4290insC and p.Pro1430?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357556(C;C)
Alt rs80357556(C;C)
Reference rs80357556(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41234489dupG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112309.1,