rs587776982(CA;CA)
From SNPedia
| common in clinvar |
| Is a | genotype |
| of | rs587776982 |
| Gene | NGLY1 |
| Chromosome | 3 |
| Position | 25,719,534 |
| mentioned | by |
| Magnitude | 0 |
| Repute | Good |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 8 | Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG) |
| (-;G) | 3 | unaffected carrier of a defective NGLY1 gene allele |
| (C;C) | 0 | common in clinvar |
| (CA;CA) | 0 | common in clinvar |
| (G;G) | 0 | common |
