rs201337954(T;T)
From SNPedia
common |
Is a | genotype |
of | rs201337954 |
Gene | NGLY1 |
Chromosome | 3 |
Position | 25,733,931 |
mentioned | by |
Magnitude | 0 |
Repute | Good |
Geno | Mag | Summary |
---|---|---|
(A;A) | 8 | Homozygous for defective NGLY1 allele, leading to congenital disorder of deglycosylation (CDDG) |
(A;T) | 3 | unaffected carrier of a defective NGLY1 gene allele |
(T;T) | 0 | common |