rs80357011

Orientation

minus

Stabilized

minus

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

Make rs80357011(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43082575

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357011
dbSNP (classic)	rs80357011
ClinGen	rs80357011
ebi	rs80357011
HLI	rs80357011
Exac	rs80357011
Gnomad	rs80357011
Varsome	rs80357011
LitVar	rs80357011
Map	rs80357011
PheGenI	rs80357011
Biobank	rs80357011
1000 genomes	rs80357011
hgdp	rs80357011
ensembl	rs80357011
geneview	rs80357011
scholar	rs80357011
google	rs80357011
pharmgkb	rs80357011
gwascentral	rs80357011
openSNP	rs80357011
23andMe	rs80357011
SNPshot	rs80357011
SNPdbe	rs80357011
MSV3d	rs80357011
GWAS Ctlg	rs80357011

Max Magnitude

6

rs80357011, also known as Q1396X, c.4186C>T and p.Gln1396Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357011(A;A) rs80357011(T;T)
Alt	rs80357011(A;A) rs80357011(T;T)
Reference	Rs80357011(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not specified Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 not specified Hereditary breast and ovarian cancer syndrome
Reversed	1
HGVS	NC_000017.10:g.41234592G>A; NC_000017.10:g.41234592G>T
CLNSRC	ClinVar
CLNACC	RCV000048481.2, RCV000112291.2, RCV000159988.2, RCV000466202.1,