rs193302853

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	6.1	Mucolipidosis III gamma
(-;A)	3	Carrier of a mucolipidosis III gamma mutation
(GTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC;GTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC)	0	common in clinvar

Make rs193302853(-;GTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC)

Reference

GRCh38 38.1/141

Chromosome

16

Position

1362562

Gene

GNPTG

is a	snp
is	mentioned by
dbSNP	rs193302853
dbSNP (classic)	rs193302853
ClinGen	rs193302853
ebi	rs193302853
HLI	rs193302853
Exac	rs193302853
Gnomad	rs193302853
Varsome	rs193302853
LitVar	rs193302853
Map	rs193302853
PheGenI	rs193302853
Biobank	rs193302853
1000 genomes	rs193302853
hgdp	rs193302853
ensembl	rs193302853
geneview	rs193302853
scholar	rs193302853
google	rs193302853
pharmgkb	rs193302853
gwascentral	rs193302853
openSNP	rs193302853
23andMe	rs193302853
SNPshot	rs193302853
SNPdbe	rs193302853
MSV3d	rs193302853
GWAS Ctlg	rs193302853

Max Magnitude

6.1

c.609+28_610-16del (del34)

Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.

ClinVar
Risk	Rs193302853(-;-)
Alt	Rs193302853(-;-)
Reference	Rs193302853(GTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC;GTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC)
Significance	Pathogenic
Disease	Mucolipidosis III Gamma
Variation	info
Gene	GNPTG
CLNDBN	Mucolipidosis III Gamma
Reversed	0
HGVS	NC_000016.9:g.1412563_1412596del34
CLNSRC	GeneReviews
CLNACC	RCV000020922.2,