rs80357021

Orientation

minus

Stabilized

minus

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

Make rs80357021(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091516

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357021
dbSNP (classic)	rs80357021
ClinGen	rs80357021
ebi	rs80357021
HLI	rs80357021
Exac	rs80357021
Gnomad	rs80357021
Varsome	rs80357021
LitVar	rs80357021
Map	rs80357021
PheGenI	rs80357021
Biobank	rs80357021
1000 genomes	rs80357021
hgdp	rs80357021
ensembl	rs80357021
geneview	rs80357021
scholar	rs80357021
google	rs80357021
pharmgkb	rs80357021
gwascentral	rs80357021
openSNP	rs80357021
23andMe	rs80357021
SNPshot	rs80357021
SNPdbe	rs80357021
MSV3d	rs80357021
GWAS Ctlg	rs80357021

Max Magnitude

6

rs80357021, also known as E1339X, c.4015G>T and p.Glu1339Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357021(A;A) rs80357021(T;T)
Alt	rs80357021(A;A) rs80357021(T;T)
Reference	Rs80357021(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not specified
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not specified
Reversed	1
HGVS	NC_000017.10:g.41243533C>A; NC_000017.10:g.41243533C>T
CLNSRC	ClinVar
CLNACC	RCV000031140.5, RCV000048409.2, RCV000162870.1, RCV000159985.1,