rs397507599

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;AGGA)	6	BRCA2 variant considered pathogenic for breast cancer
(AGGA;AGGA)	0	common in clinvar
(GAAG;GAAG)	0	common in clinvar

Make rs397507599(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32333124

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs397507599
dbSNP (classic)	rs397507599
ClinGen	rs397507599
ebi	rs397507599
HLI	rs397507599
Exac	rs397507599
Gnomad	rs397507599
Varsome	rs397507599
LitVar	rs397507599
Map	rs397507599
PheGenI	rs397507599
Biobank	rs397507599
1000 genomes	rs397507599
hgdp	rs397507599
ensembl	rs397507599
geneview	rs397507599
scholar	rs397507599
google	rs397507599
pharmgkb	rs397507599
gwascentral	rs397507599
openSNP	rs397507599
23andMe	rs397507599
SNPshot	rs397507599
SNPdbe	rs397507599
MSV3d	rs397507599
GWAS Ctlg	rs397507599

Max Magnitude

6

aka c.1646_1649delAGGA (p.Lys549fs)

ClinVar
Risk	rs397507599(-;-)
Alt	rs397507599(-;-)
Reference	Rs397507599(GAAG;GAAG)
Significance	Untested
Disease	Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32907261_32907264delAGGA
CLNSRC	ClinVar
CLNACC	RCV000043852.2,