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rs80357745

From SNPedia

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


Make rs80357745(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43095848
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357745
ebirs80357745
HLIrs80357745
Exacrs80357745
Varsomers80357745
Maprs80357745
PheGenIrs80357745
hapmaprs80357745
1000 genomesrs80357745
hgdprs80357745
ensemblrs80357745
gopubmedrs80357745
geneviewrs80357745
scholarrs80357745
googlers80357745
pharmgkbrs80357745
gwascentralrs80357745
openSNPrs80357745
23andMers80357745
23andMe allrs80357745
SNP Nexus

SNPshotrs80357745
SNPdbers80357745
MSV3drs80357745
GWAS Ctlgrs80357745
Max Magnitude6
rs80357745, also known as 787delA, c.668_668delA and p.Lys223Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357745(;)
Alt rs80357745(;)
Reference rs80357745(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41247865delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049085.2, RCV000112758.1,