Variant: rs1553666033 

    present in Gene: NGLY1;OXSM
    present in Chromosome: 3
    Position on Chromosome: 25783352
    Alleles of this Variant: C/-

rs1553666033 in NGLY1;OXSM gene and Dysmorphic features PMID 27388694 2017 Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.

PMID 12711318 2003 Ngly1, a mouse gene encoding a deglycosylating enzyme implicated in proteasomal degradation: expression, genomic organization, and chromosomal mapping.

PMID 11562482 2001 Identification of proteins that interact with mammalian peptide:N-glycanase and implicate this hydrolase in the proteasome-dependent pathway for protein degradation.

PMID 24651605 2014 Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

PMID 17088551 2006 Structural and biochemical studies of the C-terminal domain of mouse peptide-N-glycanase identify it as a mannose-binding module.

PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.

rs1553666033 in NGLY1;OXSM gene and Muscle hypotonia PMID 24651605 2014 Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

PMID 27388694 2017 Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.

PMID 17088551 2006 Structural and biochemical studies of the C-terminal domain of mouse peptide-N-glycanase identify it as a mannose-binding module.

PMID 12711318 2003 Ngly1, a mouse gene encoding a deglycosylating enzyme implicated in proteasomal degradation: expression, genomic organization, and chromosomal mapping.

PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.

PMID 11562482 2001 Identification of proteins that interact with mammalian peptide:N-glycanase and implicate this hydrolase in the proteasome-dependent pathway for protein degradation.