rs587776777

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;AGAAC)	3	Carrier of a SPR deficiency mutation
(AACAG;AACAG)	0	common in clinvar
(AGAAC;AGAAC)	0	common/normal

Make rs587776777(-;-)

Reference

GRCh38 38.1/142

Chromosome

2

Position

72888457

Gene

SPR

is a	snp
is	mentioned by
dbSNP	rs587776777
dbSNP (classic)	rs587776777
ClinGen	rs587776777
ebi	rs587776777
HLI	rs587776777
Exac	rs587776777
Gnomad	rs587776777
Varsome	rs587776777
LitVar	rs587776777
Map	rs587776777
PheGenI	rs587776777
Biobank	rs587776777
1000 genomes	rs587776777
hgdp	rs587776777
ensembl	rs587776777
geneview	rs587776777
scholar	rs587776777
google	rs587776777
pharmgkb	rs587776777
gwascentral	rs587776777
openSNP	rs587776777
23andMe	rs587776777
SNPshot	rs587776777
SNPdbe	rs587776777
MSV3d	rs587776777
GWAS Ctlg	rs587776777

Max Magnitude

3

aka c.448_452delAGAAC (p.Thr151Glyfs)

ClinVar
Risk	rs587776777(-;-)
Alt	rs587776777(-;-)
Reference	Rs587776777(AACAG;AACAG)
Significance	Pathogenic
Disease	Sepiapterin reductase deficiency
Variation	info
Gene	SPR
CLNDBN	Sepiapterin reductase deficiency
Reversed	0
HGVS	NC_000002.11:g.73115586_73115590delAGAAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013803.25,