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rs80357418

From SNPedia

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


Make rs80357418(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063890
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357418
ebirs80357418
HLIrs80357418
Exacrs80357418
Varsomers80357418
Maprs80357418
PheGenIrs80357418
hapmaprs80357418
1000 genomesrs80357418
hgdprs80357418
ensemblrs80357418
gopubmedrs80357418
geneviewrs80357418
scholarrs80357418
googlers80357418
pharmgkbrs80357418
gwascentralrs80357418
openSNPrs80357418
23andMers80357418
23andMe allrs80357418
SNP Nexus

SNPshotrs80357418
SNPdbers80357418
MSV3drs80357418
GWAS Ctlgrs80357418
Max Magnitude6
rs80357418, also known as W1712X, c.5136G>A and p.Trp1712Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357418(A;A)
Alt rs80357418(A;A)
Reference rs80357418(G;G)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41215907C>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000048806.3, RCV000077600.3, RCV000131830.2,