rs397508857

Orientation

minus

Stabilized

minus

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

Make rs397508857(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43115726

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397508857
dbSNP (classic)	rs397508857
ClinGen	rs397508857
ebi	rs397508857
HLI	rs397508857
Exac	rs397508857
Gnomad	rs397508857
Varsome	rs397508857
LitVar	rs397508857
Map	rs397508857
PheGenI	rs397508857
Biobank	rs397508857
1000 genomes	rs397508857
hgdp	rs397508857
ensembl	rs397508857
geneview	rs397508857
scholar	rs397508857
google	rs397508857
pharmgkb	rs397508857
gwascentral	rs397508857
openSNP	rs397508857
23andMe	rs397508857
SNPshot	rs397508857
SNPdbe	rs397508857
MSV3d	rs397508857
GWAS Ctlg	rs397508857

Max Magnitude

6

BRCA1, c.133_134delAA (p.Lys45Ilefs)

ClinVar
Risk	rs397508857(-;-)
Alt	rs397508857(-;-)
Reference	Rs397508857(AA;AA)
Significance	Pathogenic
Disease	Familial cancer of breast not provided Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast not provided Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41267743_41267744delTT
CLNSRC	ClinVar
CLNACC	RCV000047426.4, RCV000235120.1, RCV000241271.2,