rs397508988

Orientation

minus

Stabilized

minus

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

Make rs397508988(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092890

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397508988
dbSNP (classic)	rs397508988
ClinGen	rs397508988
ebi	rs397508988
HLI	rs397508988
Exac	rs397508988
Gnomad	rs397508988
Varsome	rs397508988
LitVar	rs397508988
Map	rs397508988
PheGenI	rs397508988
Biobank	rs397508988
1000 genomes	rs397508988
hgdp	rs397508988
ensembl	rs397508988
geneview	rs397508988
scholar	rs397508988
google	rs397508988
pharmgkb	rs397508988
gwascentral	rs397508988
openSNP	rs397508988
23andMe	rs397508988
SNPshot	rs397508988
SNPdbe	rs397508988
MSV3d	rs397508988
GWAS Ctlg	rs397508988

Max Magnitude

6

c.2641G>T (p.Glu881Ter)

ClinVar clinical significance not provided

ClinVar
Risk	rs397508988(A;A) rs397508988(T;T)
Alt	rs397508988(A;A) rs397508988(T;T)
Reference	Rs397508988(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41244907C>A
CLNSRC	ClinVar
CLNACC	RCV000047907.2, RCV000225552.2, RCV000478682.1,