rs397509229

Orientation

minus

Stabilized

minus

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

Make rs397509229(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43063898

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397509229
dbSNP (classic)	rs397509229
ClinGen	rs397509229
ebi	rs397509229
HLI	rs397509229
Exac	rs397509229
Gnomad	rs397509229
Varsome	rs397509229
LitVar	rs397509229
Map	rs397509229
PheGenI	rs397509229
Biobank	rs397509229
1000 genomes	rs397509229
hgdp	rs397509229
ensembl	rs397509229
geneview	rs397509229
scholar	rs397509229
google	rs397509229
pharmgkb	rs397509229
gwascentral	rs397509229
openSNP	rs397509229
23andMe	rs397509229
SNPshot	rs397509229
SNPdbe	rs397509229
MSV3d	rs397509229
GWAS Ctlg	rs397509229

Max Magnitude

6

c.5128G>T (p.Gly1710Ter)

ClinVar clinical significance not provided

ClinVar
Risk	rs397509229(A;A) rs397509229(T;T)
Alt	rs397509229(A;A) rs397509229(T;T)
Reference	Rs397509229(G;G)
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.41215915C>A
CLNSRC	ClinVar
CLNACC	RCV000048805.2, RCV000256527.2,