rs80357317

Orientation

minus

Stabilized

minus

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

Make rs80357317(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092222

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357317
dbSNP (classic)	rs80357317
ClinGen	rs80357317
ebi	rs80357317
HLI	rs80357317
Exac	rs80357317
Gnomad	rs80357317
Varsome	rs80357317
LitVar	rs80357317
Map	rs80357317
PheGenI	rs80357317
Biobank	rs80357317
1000 genomes	rs80357317
hgdp	rs80357317
ensembl	rs80357317
geneview	rs80357317
scholar	rs80357317
google	rs80357317
pharmgkb	rs80357317
gwascentral	rs80357317
openSNP	rs80357317
23andMe	rs80357317
SNPshot	rs80357317
SNPdbe	rs80357317
MSV3d	rs80357317
GWAS Ctlg	rs80357317

Max Magnitude

6

rs80357317, also known as C1103X, c.3309T>A and p.Cys1103Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357317(A;A)
Alt	rs80357317(A;A)
Reference	Rs80357317(T;T)
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.41244239A>T
CLNSRC	ClinVar
CLNACC	RCV000048138.2, RCV000112056.3,