rs80357234

Orientation

minus

Stabilized

minus

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

Make rs80357234(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43104949

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357234
dbSNP (classic)	rs80357234
ClinGen	rs80357234
ebi	rs80357234
HLI	rs80357234
Exac	rs80357234
Gnomad	rs80357234
Varsome	rs80357234
LitVar	rs80357234
Map	rs80357234
PheGenI	rs80357234
Biobank	rs80357234
1000 genomes	rs80357234
hgdp	rs80357234
ensembl	rs80357234
geneview	rs80357234
scholar	rs80357234
google	rs80357234
pharmgkb	rs80357234
gwascentral	rs80357234
openSNP	rs80357234
23andMe	rs80357234
SNPshot	rs80357234
SNPdbe	rs80357234
MSV3d	rs80357234
GWAS Ctlg	rs80357234

Max Magnitude

6

rs80357234, also known as Q74X, c.220C>T and p.Gln74Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357234(T;T)
Alt	rs80357234(T;T)
Reference	Rs80357234(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41256966G>A
CLNSRC	ClinVar
CLNACC	RCV000047758.3, RCV000112044.3, RCV000414657.1,