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rs201337954(A;T)

From SNPedia
unaffected carrier of a defective NGLY1 gene allele
Is agenotype
ofrs201337954
GeneNGLY1
Chromosome3
Position25,733,931
mentionedby
Magnitude3
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

Unaffected carrier (assuming the other NGLY1 allele is normal) of an allele which is associated with congenital disorder of deglycosylation