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rs80357603

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
(-;GTCA) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357603(-;-)
Make rs80357603(GTCA;GTCA)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position43092926
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357603
ebirs80357603
HLIrs80357603
Exacrs80357603
Varsomers80357603
Maprs80357603
PheGenIrs80357603
hapmaprs80357603
1000 genomesrs80357603
hgdprs80357603
ensemblrs80357603
gopubmedrs80357603
geneviewrs80357603
scholarrs80357603
googlers80357603
pharmgkbrs80357603
gwascentralrs80357603
openSNPrs80357603
23andMers80357603
23andMe allrs80357603
SNP Nexus

SNPshotrs80357603
SNPdbers80357603
MSV3drs80357603
GWAS Ctlgrs80357603
Max Magnitude6
rs80357603, also known as 2723ins4, c.2604_2605insGTCA and p.Ser868_Phe869?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357603(GTCA;GTCA)
Alt rs80357603(GTCA;GTCA)
Reference rs80357603(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244943_41244944insTGAC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111900.1,