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rs80357550

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;GA) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357550(-;-)
Make rs80357550(GA;GA)
ReferenceGRCh38 38.1/142
Chromosome17
Position43106501
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357550
ebirs80357550
HLIrs80357550
Exacrs80357550
Varsomers80357550
Maprs80357550
PheGenIrs80357550
hapmaprs80357550
1000 genomesrs80357550
hgdprs80357550
ensemblrs80357550
gopubmedrs80357550
geneviewrs80357550
scholarrs80357550
googlers80357550
pharmgkbrs80357550
gwascentralrs80357550
openSNPrs80357550
23andMers80357550
23andMe allrs80357550
SNP Nexus

SNPshotrs80357550
SNPdbers80357550
MSV3drs80357550
GWAS Ctlgrs80357550
Max Magnitude6
rs80357550, also known as 285insGA, c.166_167insGA and p.Lys56?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357550(GA;GA)
Alt rs80357550(GA;GA)
Reference rs80357550(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41258518_41258519insTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111930.1,