rs80357068

Orientation

minus

Stabilized

minus

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

Make rs80357068(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094338

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357068
dbSNP (classic)	rs80357068
ClinGen	rs80357068
ebi	rs80357068
HLI	rs80357068
Exac	rs80357068
Gnomad	rs80357068
Varsome	rs80357068
LitVar	rs80357068
Map	rs80357068
PheGenI	rs80357068
Biobank	rs80357068
1000 genomes	rs80357068
hgdp	rs80357068
ensembl	rs80357068
geneview	rs80357068
scholar	rs80357068
google	rs80357068
pharmgkb	rs80357068
gwascentral	rs80357068
openSNP	rs80357068
23andMe	rs80357068
SNPshot	rs80357068
SNPdbe	rs80357068
MSV3d	rs80357068
GWAS Ctlg	rs80357068

Max Magnitude

6

rs80357068, also known as S398X, c.1193C>G and p.Ser398Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357068(A;A) rs80357068(G;G) rs80357068(T;T)
Alt	rs80357068(A;A) rs80357068(G;G) rs80357068(T;T)
Reference	Rs80357068(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41246355G>C; NC_000017.10:g.41246355G>T
CLNSRC	ClinVar
CLNACC	RCV000047376.2, RCV000111564.2, RCV000047375.2,