rs528583612(A;A)
From SNPedia
| Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG) |
| Is a | genotype |
| of | rs528583612 |
| Gene | NGLY1 |
| Chromosome | 3 |
| Position | 25,720,179 |
| mentioned | by |
| Magnitude | 8 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 8 | Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG) |
| (A;G) | 3 | unaffected carrier of a defective NGLY1 gene allele |
| (G;G) | 0 | common |
Two defective copies of the NGLY1 gene, leading to congenital disorder of deglycosylation (CDDG)
