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Table 2 Genetic testing of Case 2 and his parents

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