rs80357223

Orientation

minus

Stabilized

minus

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

Make rs80357223(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092731

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357223
dbSNP (classic)	rs80357223
ClinGen	rs80357223
ebi	rs80357223
HLI	rs80357223
Exac	rs80357223
Gnomad	rs80357223
Varsome	rs80357223
LitVar	rs80357223
Map	rs80357223
PheGenI	rs80357223
Biobank	rs80357223
1000 genomes	rs80357223
hgdp	rs80357223
ensembl	rs80357223
geneview	rs80357223
scholar	rs80357223
google	rs80357223
pharmgkb	rs80357223
gwascentral	rs80357223
openSNP	rs80357223
23andMe	rs80357223
SNPshot	rs80357223
SNPdbe	rs80357223
MSV3d	rs80357223
GWAS Ctlg	rs80357223

Max Magnitude

6

rs80357223, also known as Q934X, c.2800C>T and p.Gln934Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357223(T;T)
Alt	rs80357223(T;T)
Reference	Rs80357223(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.41244748G>A
CLNSRC	ClinVar
CLNACC	RCV000047973.3, RCV000077528.5, RCV000236201.2,