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rs80357592

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;C) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357592(-;-)
Make rs80357592(C;C)
ReferenceGRCh38 38.1/142
Chromosome17
Position43094138
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357592
ebirs80357592
HLIrs80357592
Exacrs80357592
Varsomers80357592
Maprs80357592
PheGenIrs80357592
hapmaprs80357592
1000 genomesrs80357592
hgdprs80357592
ensemblrs80357592
gopubmedrs80357592
geneviewrs80357592
scholarrs80357592
googlers80357592
pharmgkbrs80357592
gwascentralrs80357592
openSNPrs80357592
23andMers80357592
23andMe allrs80357592
SNP Nexus

SNPshotrs80357592
SNPdbers80357592
MSV3drs80357592
GWAS Ctlgrs80357592
Max Magnitude6
rs80357592, also known as 1511insC, c.1392_1393insC and p.Thr464_Tyr465?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357592(C;C)
Alt rs80357592(C;C)
Reference rs80357592(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246156dupG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111606.1,