rs80357356

Orientation

minus

Stabilized

minus

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

Make rs80357356(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091867

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357356
dbSNP (classic)	rs80357356
ClinGen	rs80357356
ebi	rs80357356
HLI	rs80357356
Exac	rs80357356
Gnomad	rs80357356
Varsome	rs80357356
LitVar	rs80357356
Map	rs80357356
PheGenI	rs80357356
Biobank	rs80357356
1000 genomes	rs80357356
hgdp	rs80357356
ensembl	rs80357356
geneview	rs80357356
scholar	rs80357356
google	rs80357356
pharmgkb	rs80357356
gwascentral	rs80357356
openSNP	rs80357356
23andMe	rs80357356
SNPshot	rs80357356
SNPdbe	rs80357356
MSV3d	rs80357356
GWAS Ctlg	rs80357356

Max Magnitude

6

rs80357356, also known as E1222X, c.3664G>T and p.Glu1222Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357356(T;T)
Alt	rs80357356(T;T)
Reference	Rs80357356(G;G)
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.41243884C>A
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000048278.2, RCV000083196.5, RCV000131817.3,