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rs41293465

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 pathogenic mutation associated with breast cancer
(G;G) 0
Make rs41293465(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43045767
GeneBRCA1
is asnp
is mentioned by
dbSNPrs41293465
ebirs41293465
HLIrs41293465
Exacrs41293465
Varsomers41293465
Maprs41293465
PheGenIrs41293465
hapmaprs41293465
1000 genomesrs41293465
hgdprs41293465
ensemblrs41293465
gopubmedrs41293465
geneviewrs41293465
scholarrs41293465
googlers41293465
pharmgkbrs41293465
gwascentralrs41293465
openSNPrs41293465
23andMers41293465
23andMe allrs41293465
SNP Nexus

SNPshotrs41293465
SNPdbers41293465
MSV3drs41293465
GWAS Ctlgrs41293465
Max Magnitude6

rs41293465, also known as R1835X, c.5503C>T, 5622C>T and p.Arg1835Ter, is a variant in the BRCA1 gene. The rare variant allele is considered either pathogenic or likely to be pathogenic for breast cancer by multiple sources in ClinVar.


ClinVar
Risk rs41293465(T;T)
Alt rs41293465(T;T)
Reference rs41293465(C;C)
Significance Pathogenic
Disease not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN not provided Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41197784G>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000049020.5, RCV000077627.9, RCV000131862.2, RCV000203652.2, RCV000238956.1,