rs80357305

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6	BRCA1 variant considered pathogenic for breast cancer

Make rs80357305(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43082503

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357305
dbSNP (classic)	rs80357305
ClinGen	rs80357305
ebi	rs80357305
HLI	rs80357305
Exac	rs80357305
Gnomad	rs80357305
Varsome	rs80357305
LitVar	rs80357305
Map	rs80357305
PheGenI	rs80357305
Biobank	rs80357305
1000 genomes	rs80357305
hgdp	rs80357305
ensembl	rs80357305
geneview	rs80357305
scholar	rs80357305
google	rs80357305
pharmgkb	rs80357305
gwascentral	rs80357305
openSNP	rs80357305
23andMe	rs80357305
SNPshot	rs80357305
SNPdbe	rs80357305
MSV3d	rs80357305
GWAS Ctlg	rs80357305

Max Magnitude

6

rs80357305, also known as Q1420X, c.4258C>T and p.Gln1420Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357305(G;G) rs80357305(T;T)
Alt	rs80357305(G;G) rs80357305(T;T)
Reference	Rs80357305(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41234520G>A; NC_000017.10:g.41234520G>C
CLNSRC	ClinVar
CLNACC	RCV000048504.2, RCV000077569.8, RCV000236776.1, RCV000218736.1,