NM_024884.3(L2HGDH):c.137C>T (p.Thr46Ile) AND L-2-hydroxyglutaric aciduria
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000962502.9
Allele description [Variation Report for NM_024884.3(L2HGDH):c.137C>T (p.Thr46Ile)]
NM_024884.3(L2HGDH):c.137C>T (p.Thr46Ile)
Condition(s)
- Name:
- L-2-hydroxyglutaric aciduria (L2HGA)
- Identifiers:
- MONDO: MONDO:0009370; MedGen: C1855995; Orphanet: 79314; OMIM: 236792; Human Phenotype Ontology: HP:0040144
-
PREDICTED: Homo sapiens eukaryotic translation elongation factor 1 delta (EEF1D)...
PREDICTED: Homo sapiens eukaryotic translation elongation factor 1 delta (EEF1D), transcript variant X38, mRNAgi|2462618169|ref|XM_054359940.1|Nucleotide
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Last Updated: May 26, 2024