rs397509081

Orientation

minus

Stabilized

minus

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

Make rs397509081(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091978

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397509081
dbSNP (classic)	rs397509081
ClinGen	rs397509081
ebi	rs397509081
HLI	rs397509081
Exac	rs397509081
Gnomad	rs397509081
Varsome	rs397509081
LitVar	rs397509081
Map	rs397509081
PheGenI	rs397509081
Biobank	rs397509081
1000 genomes	rs397509081
hgdp	rs397509081
ensembl	rs397509081
geneview	rs397509081
scholar	rs397509081
google	rs397509081
pharmgkb	rs397509081
gwascentral	rs397509081
openSNP	rs397509081
23andMe	rs397509081
SNPshot	rs397509081
SNPdbe	rs397509081
MSV3d	rs397509081
GWAS Ctlg	rs397509081

Max Magnitude

6

aka c.3553G>T (p.Glu1185Ter)

ClinVar
Risk	rs397509081(T;T)
Alt	rs397509081(T;T)
Reference	Rs397509081(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast not specified Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast not specified Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41243995C>A
CLNSRC	ClinVar
CLNACC	RCV000048232.2, RCV000239183.1, RCV000256591.2,