rs193302850

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	6.1	Mucolipidosis III gamma
(-;GACGCCTGCCGTT)	3	Carrier of a mucolipidosis III gamma mutation
(GACGCCTGCCGTT;GACGCCTGCCGTT)	0	common in clinvar
(I;I)	0	common genotype
(TGACGCCTGCCGT;TGACGCCTGCCGT)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

16

Position

1362099

Gene

GNPTG

is a	snp
is	mentioned by
dbSNP	rs193302850
dbSNP (classic)	rs193302850
ClinGen	rs193302850
ebi	rs193302850
HLI	rs193302850
Exac	rs193302850
Gnomad	rs193302850
Varsome	rs193302850
LitVar	rs193302850
Map	rs193302850
PheGenI	rs193302850
Biobank	rs193302850
1000 genomes	rs193302850
hgdp	rs193302850
ensembl	rs193302850
geneview	rs193302850
scholar	rs193302850
google	rs193302850
pharmgkb	rs193302850
gwascentral	rs193302850
openSNP	rs193302850
23andMe	rs193302850
SNPshot	rs193302850
SNPdbe	rs193302850
MSV3d	rs193302850
GWAS Ctlg	rs193302850

Max Magnitude

6.1

ClinVar
Risk	Rs193302850(-;-) Rs193302850(TGACGCCTGCCGT;TGACGCCTGCCGT)
Alt	Rs193302850(-;-) Rs193302850(TGACGCCTGCCGT;TGACGCCTGCCGT)
Reference	Rs193302850(GACGCCTGCCGTT;GACGCCTGCCGTT)
Significance	Pathogenic
Disease	Mucolipidosis III Gamma
Variation	info
Gene	GNPTG
CLNDBN	Mucolipidosis III Gamma
Reversed	0
HGVS	NC_000016.9:g.1412100_1412112delGACGCCTGCCGTT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020919.1,