rs397509228

Orientation

minus

Stabilized

minus

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

Make rs397509228(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43063914

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397509228
dbSNP (classic)	rs397509228
ClinGen	rs397509228
ebi	rs397509228
HLI	rs397509228
Exac	rs397509228
Gnomad	rs397509228
Varsome	rs397509228
LitVar	rs397509228
Map	rs397509228
PheGenI	rs397509228
Biobank	rs397509228
1000 genomes	rs397509228
hgdp	rs397509228
ensembl	rs397509228
geneview	rs397509228
scholar	rs397509228
google	rs397509228
pharmgkb	rs397509228
gwascentral	rs397509228
openSNP	rs397509228
23andMe	rs397509228
SNPshot	rs397509228
SNPdbe	rs397509228
MSV3d	rs397509228
GWAS Ctlg	rs397509228

Max Magnitude

6

BRCA1, c.5112delT (p.Leu1705Terfs)

ClinVar
Risk	rs397509228(-;-)
Alt	rs397509228(-;-)
Reference	Rs397509228(T;T)
Significance	Pathogenic
Disease	Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41215931delA
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000048798.2, RCV000129513.2, RCV000241357.1,