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rs80357598

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
(A;A) 0 common in clinvar


Make rs80357598(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093088
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357598
ebirs80357598
HLIrs80357598
Exacrs80357598
Varsomers80357598
Maprs80357598
PheGenIrs80357598
hapmaprs80357598
1000 genomesrs80357598
hgdprs80357598
ensemblrs80357598
gopubmedrs80357598
geneviewrs80357598
scholarrs80357598
googlers80357598
pharmgkbrs80357598
gwascentralrs80357598
openSNPrs80357598
23andMers80357598
23andMe allrs80357598
SNP Nexus

SNPshotrs80357598
SNPdbers80357598
MSV3drs80357598
GWAS Ctlgrs80357598
Max Magnitude6
rs80357598, also known as 2562delA, c.2443_2443delA and p.Ile815Phefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357598(;)
Alt rs80357598(;)
Reference rs80357598(A;A)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245105delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047842.3, RCV000077519.3,