rs397508866

minus

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

Make rs397508866(GAAAG;GAAAG)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43094141

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397508866
dbSNP (classic)	rs397508866
ClinGen	rs397508866
ebi	rs397508866
HLI	rs397508866
Exac	rs397508866
Gnomad	rs397508866
Varsome	rs397508866
LitVar	rs397508866
Map	rs397508866
PheGenI	rs397508866
Biobank	rs397508866
1000 genomes	rs397508866
hgdp	rs397508866
ensembl	rs397508866
geneview	rs397508866
scholar	rs397508866
google	rs397508866
pharmgkb	rs397508866
gwascentral	rs397508866
openSNP	rs397508866
23andMe	rs397508866
SNPshot	rs397508866
SNPdbe	rs397508866
MSV3d	rs397508866
GWAS Ctlg	rs397508866

Max Magnitude

6

rs397508866, also known as 1506A>GinsG, c.1387_1390delAAAAinsGAAAG and Lys463Glufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs397508866(GAAAG;GAAAG)
Alt	rs397508866(GAAAG;GAAAG)
Reference	Rs397508866(AAAA;AAAA)
Significance	Untested
Disease	Familial cancer of breast
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast
Reversed	1
HGVS	NC_000017.10:g.41246158_41246161delTTTTinsCTTTC
CLNSRC
CLNACC	RCV000047455.2,