Have questions? Visit https://www.reddit.com/r/SNPedia

rs587777265(C;C)

From SNPedia

Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)
Is agenotype
ofrs587777265
GeneNGLY1
Chromosome3
Position25,732,374
mentionedby
Magnitude8
ReputeBad
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common
(-;C) 3 unaffected carrier of a defective NGLY1 gene allele
(C;C) 8 Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)

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