rs587782392

Orientation

minus

Stabilized

minus

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

Make rs587782392(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

43071114

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs587782392
dbSNP (classic)	rs587782392
ClinGen	rs587782392
ebi	rs587782392
HLI	rs587782392
Exac	rs587782392
Gnomad	rs587782392
Varsome	rs587782392
LitVar	rs587782392
Map	rs587782392
PheGenI	rs587782392
Biobank	rs587782392
1000 genomes	rs587782392
hgdp	rs587782392
ensembl	rs587782392
geneview	rs587782392
scholar	rs587782392
google	rs587782392
pharmgkb	rs587782392
gwascentral	rs587782392
openSNP	rs587782392
23andMe	rs587782392
SNPshot	rs587782392
SNPdbe	rs587782392
MSV3d	rs587782392
GWAS Ctlg	rs587782392

Max Magnitude

6

BRCA1 mutation, aka c.4799dupT (p.Leu1600Phefs)

ClinVar
Risk	rs587782392(T;T)
Alt	rs587782392(T;T)
Reference	Rs587782392(-;-)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41223132dupA
CLNSRC
CLNACC	RCV000131402.1, RCV000241117.1,