rs587776982(-;G)
From SNPedia
unaffected carrier of a defective NGLY1 gene allele |
Is a | genotype |
of | rs587776982 |
Gene | NGLY1 |
Chromosome | 3 |
Position | 25,719,534 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
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 |
Unaffected carrier (assuming the other NGLY1 allele is normal) of an allele which is associated with congenital disorder of deglycosylation