rs41293465

minus

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)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43045767

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs41293465
dbSNP (classic)	rs41293465
ClinGen	rs41293465
ebi	rs41293465
HLI	rs41293465
Exac	rs41293465
Gnomad	rs41293465
Varsome	rs41293465
LitVar	rs41293465
Map	rs41293465
PheGenI	rs41293465
Biobank	rs41293465
1000 genomes	rs41293465
hgdp	rs41293465
ensembl	rs41293465
geneview	rs41293465
scholar	rs41293465
google	rs41293465
pharmgkb	rs41293465
gwascentral	rs41293465
openSNP	rs41293465
23andMe	rs41293465
SNPshot	rs41293465
SNPdbe	rs41293465
MSV3d	rs41293465
GWAS Ctlg	rs41293465

Max Magnitude

6

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 Neoplasm 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 Neoplasm of breast
Reversed	1
HGVS	NC_000017.10:g.41197784G>A
CLNSRC	Children's Hospital of Eastern Ontario
CLNACC	RCV000049020.6, RCV000077627.11, RCV000131862.4, RCV000203652.3, RCV000238956.1, RCV000240766.1,