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rs80357355

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 Normal
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357355(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093571
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357355
ebirs80357355
HLIrs80357355
Exacrs80357355
Varsomers80357355
Maprs80357355
PheGenIrs80357355
hapmaprs80357355
1000 genomesrs80357355
hgdprs80357355
ensemblrs80357355
gopubmedrs80357355
geneviewrs80357355
scholarrs80357355
googlers80357355
pharmgkbrs80357355
gwascentralrs80357355
openSNPrs80357355
23andMers80357355
23andMe allrs80357355
SNP Nexus

SNPshotrs80357355
SNPdbers80357355
MSV3drs80357355
GWAS Ctlgrs80357355
Max Magnitude6
rs80357355, also known as K654X, c.1960A>T and p.Lys654Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357355(G,T;G,T)
Alt rs80357355(G,T;G,T)
Reference rs80357355(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41245588T>A; NC_000017.10:g.41245588T>C
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000031017.4, RCV000047658.6, RCV000131895.2, RCV000203662.1, RCV000047657.2,