An
Autosomal recessive
mode(s) within the
Metabolic disorders
category
Pathogenic
1
Pathogenic/Likely pathogenic
1
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_024884.3(L2HGDH):c.1A>G (p.Met1Val) | Single nucleotide variant | Chr14:50312150 | Pathogenic | Missense variant|initiator_codon_variant|5 prime UTR variant|intron variant | rs1477101414 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_024884.3(L2HGDH):c.908T>A (p.Val303Asp) | Single nucleotide variant | Chr14:50267909 | Uncertain significance | Missense variant | rs2139977737 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_024884.3(L2HGDH):c.256+1G>A | Single nucleotide variant | Chr14:50302901 | Pathogenic/Likely pathogenic | Splice donor variant | rs150299874 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution