rs80357377

Orientation

minus

Stabilized

minus

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

Make rs80357377(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092770

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357377
dbSNP (classic)	rs80357377
ClinGen	rs80357377
ebi	rs80357377
HLI	rs80357377
Exac	rs80357377
Gnomad	rs80357377
Varsome	rs80357377
LitVar	rs80357377
Map	rs80357377
PheGenI	rs80357377
Biobank	rs80357377
1000 genomes	rs80357377
hgdp	rs80357377
ensembl	rs80357377
geneview	rs80357377
scholar	rs80357377
google	rs80357377
pharmgkb	rs80357377
gwascentral	rs80357377
openSNP	rs80357377
23andMe	rs80357377
SNPshot	rs80357377
SNPdbe	rs80357377
MSV3d	rs80357377
GWAS Ctlg	rs80357377

Max Magnitude

6

rs80357377, also known as Q921X, c.2761C>T and p.Gln921Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357377(T;T)
Alt	rs80357377(T;T)
Reference	Rs80357377(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41244787G>A
CLNSRC	ClinVar
CLNACC	RCV000047961.2, RCV000111933.3, RCV000221485.1,