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rs587776982(-;-)

From SNPedia
(Redirected from Rs587776982(T;T))
Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)
Is agenotype
ofrs587776982
GeneNGLY1
Chromosome3
Position25,719,534
mentionedby
Magnitude8
ReputeBad
Geno Mag Summary
(-;-) 8 Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG)
(-;G) 3 unaffected carrier of a defective NGLY1 gene allele
(C;C) 0 common in clinvar
(CA;CA) 0 common in clinvar
(G;G) 0 common

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