rs80357352

Orientation

minus

Stabilized

minus

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

Make rs80357352(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43071104

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357352
dbSNP (classic)	rs80357352
ClinGen	rs80357352
ebi	rs80357352
HLI	rs80357352
Exac	rs80357352
Gnomad	rs80357352
Varsome	rs80357352
LitVar	rs80357352
Map	rs80357352
PheGenI	rs80357352
Biobank	rs80357352
1000 genomes	rs80357352
hgdp	rs80357352
ensembl	rs80357352
geneview	rs80357352
scholar	rs80357352
google	rs80357352
pharmgkb	rs80357352
gwascentral	rs80357352
openSNP	rs80357352
23andMe	rs80357352
SNPshot	rs80357352
SNPdbe	rs80357352
MSV3d	rs80357352
GWAS Ctlg	rs80357352

Max Magnitude

6

rs80357352, also known as Q1604X, c.4810C>T and p.Gln1604Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357352(T;T)
Alt	rs80357352(T;T)
Reference	Rs80357352(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.41223121G>A
CLNSRC	ClinVar
CLNACC	RCV000048663.2, RCV000112402.3, RCV000215003.1, RCV000480361.1,