rs587777265(C;C)
From SNPedia
| Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG) |
| Is a | genotype |
| of | rs587777265 |
| Gene | NGLY1 |
| Chromosome | 3 |
| Position | 25,732,374 |
| mentioned | by |
| Magnitude | 8 |
| Repute | Bad |
| 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) |
Two defective copies of the NGLY1 gene, leading to congenital disorder of deglycosylation (CDDG)
