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rs80357455

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357455(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091912
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357455
ebirs80357455
HLIrs80357455
Exacrs80357455
Varsomers80357455
Maprs80357455
PheGenIrs80357455
hapmaprs80357455
1000 genomesrs80357455
hgdprs80357455
ensemblrs80357455
gopubmedrs80357455
geneviewrs80357455
scholarrs80357455
googlers80357455
pharmgkbrs80357455
gwascentralrs80357455
openSNPrs80357455
23andMers80357455
23andMe allrs80357455
SNP Nexus

SNPshotrs80357455
SNPdbers80357455
MSV3drs80357455
GWAS Ctlgrs80357455
Max Magnitude6
rs80357455, also known as K1207X, c.3619A>T and p.Lys1207Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357455(G;G) rs80357455(T;T)
Alt rs80357455(G;G) rs80357455(T;T)
Reference Rs80357455(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not specified Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not specified Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41243929T>A; NC_000017.10:g.41243929T>C
CLNSRC ClinVar
CLNACC RCV000074583.4, RCV000112136.2, RCV000074582.4, RCV000195893.1,