Deficiency of aromatic-L-amino-acid decarboxylase
An Autosomal recessive mode(s) within the Metabolic disorders category
Pathogenic/Likely pathogenic
1
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln) | Single nucleotide variant | Chr7:50476625 | Pathogenic/Likely pathogenic | Missense variant | rs201951824 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001082971.2(DDC):c.353T>A (p.Met118Lys) | Single nucleotide variant | Chr7:50537942 | Uncertain significance | Missense variant|intron variant |
.Pediatrics Genetics, Post Graduate Institute of Medical Education and Research |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution