From: Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report
Gene | AMN | |
---|---|---|
Chromosomal location | Chr14: 103395992 | Chr14: 103395855 |
Nucleotide | NM_030943. c.761G > A | NM_030943. c.742C > T |
Amino acid | NM_030943. p.G254E | NM_030943. p.Q248* |
Maternal genotype | Wild type | Heterozygous |
Paternal genotype | Heterozygous | Wild type |
Diagnosis | Imerslund–Gräsbeck syndrome |