rs397508984

Merged into

rs80357756

Orientation

minus

Stabilized

minus

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

Make rs397508984(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092937

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397508984
dbSNP (classic)	rs397508984
ClinGen	rs397508984
ebi	rs397508984
HLI	rs397508984
Exac	rs397508984
Gnomad	rs397508984
Varsome	rs397508984
LitVar	rs397508984
Map	rs397508984
PheGenI	rs397508984
Biobank	rs397508984
1000 genomes	rs397508984
hgdp	rs397508984
ensembl	rs397508984
geneview	rs397508984
scholar	rs397508984
google	rs397508984
pharmgkb	rs397508984
gwascentral	rs397508984
openSNP	rs397508984
23andMe	rs397508984
SNPshot	rs397508984
SNPdbe	rs397508984
MSV3d	rs397508984
GWAS Ctlg	rs397508984

Status

Merged into rs80357756

Max Magnitude

6

BRCA1, c.2594delA (p.Lys865Serfs)

ClinVar
Risk
Alt
Reference	Rs397508984(A;A)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41244954delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047891.3, RCV000077523.4,