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rs528583612(A;A)

From SNPedia

Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)
Is agenotype
ofrs528583612
GeneNGLY1
Chromosome3
Position25,720,179
mentionedby
Magnitude8
ReputeBad
Geno Mag Summary
(A;A) 8 Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)
(A;G) 3 unaffected carrier of a defective NGLY1 gene allele
(G;G) 0 common

Two defective copies of the NGLY1 gene, leading to congenital disorder of deglycosylation (CDDG)