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rs587777265(;)

From SNPedia
(Redirected from Rs587777265(T;T))

common in clinvar
Is agenotype
ofrs587777265
GeneNGLY1
Chromosome3
Position25,732,374
mentioned
Magnitude0
ReputeGood
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)