rs80357260

Orientation

minus

Stabilized

minus

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

Make rs80357260(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43090946

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357260
dbSNP (classic)	rs80357260
ClinGen	rs80357260
ebi	rs80357260
HLI	rs80357260
Exac	rs80357260
Gnomad	rs80357260
Varsome	rs80357260
LitVar	rs80357260
Map	rs80357260
PheGenI	rs80357260
Biobank	rs80357260
1000 genomes	rs80357260
hgdp	rs80357260
ensembl	rs80357260
geneview	rs80357260
scholar	rs80357260
google	rs80357260
pharmgkb	rs80357260
gwascentral	rs80357260
openSNP	rs80357260
23andMe	rs80357260
SNPshot	rs80357260
SNPdbe	rs80357260
MSV3d	rs80357260
GWAS Ctlg	rs80357260

Max Magnitude

6

rs80357260, also known as Q1395X, c.4183C>T and p.Gln1395Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357260(T;T)
Alt	rs80357260(T;T)
Reference	Rs80357260(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41242963G>A
CLNSRC	ClinVar
CLNACC	RCV000048471.4, RCV000077564.9, RCV000162874.2, RCV000212181.3,