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rs201337954(A;A)

From SNPedia

Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)
Is agenotype
ofrs201337954
GeneNGLY1
Chromosome3
Position25,733,931
mentionedby
Magnitude8
ReputeBad
Geno Mag Summary
(A;A) 8 Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)
(A;T) 3 unaffected carrier of a defective NGLY1 gene allele
(T;T) 0 common

Two defective copies of the NGLY1 gene, leading to congenital disorder of deglycosylation (CDDG). However, due to orientation issues, this may be spurious and should be confirmed.