rs80357123

Orientation

minus

Stabilized

minus

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

Make rs80357123(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43057078

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357123
dbSNP (classic)	rs80357123
ClinGen	rs80357123
ebi	rs80357123
HLI	rs80357123
Exac	rs80357123
Gnomad	rs80357123
Varsome	rs80357123
LitVar	rs80357123
Map	rs80357123
PheGenI	rs80357123
Biobank	rs80357123
1000 genomes	rs80357123
hgdp	rs80357123
ensembl	rs80357123
geneview	rs80357123
scholar	rs80357123
google	rs80357123
pharmgkb	rs80357123
gwascentral	rs80357123
openSNP	rs80357123
23andMe	rs80357123
SNPshot	rs80357123
SNPdbe	rs80357123
MSV3d	rs80357123
GWAS Ctlg	rs80357123

Max Magnitude

6

rs80357123, also known as R1751X, c.5251C>T and p.Arg1751Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5010046

ClinVar
Risk	rs80357123(A;A) rs80357123(T;T)
Alt	rs80357123(A;A) rs80357123(T;T)
Reference	Rs80357123(C;C)
Significance	Other
Disease	Hereditary breast and ovarian cancer syndrome not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome Neoplasm of breast
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome not provided Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Neoplasm of breast
Reversed	1
HGVS	NC_000017.10:g.41209095G>A
CLNSRC	ClinVar
CLNACC	RCV000048882.5, RCV000074600.7, RCV000077611.8, RCV000162884.2, RCV000414226.1,