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rs587777265(-;C)

From SNPedia

unaffected carrier of a defective NGLY1 gene allele
Is agenotype
ofrs587777265
GeneNGLY1
Chromosome3
Position25,732,374
mentionedby
Magnitude3
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)

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