NM_000170.3(GLDC):c.2074C>G (p.Leu692Val) AND Non-ketotic hyperglycinemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003063175.2
Allele description [Variation Report for NM_000170.3(GLDC):c.2074C>G (p.Leu692Val)]
NM_000170.3(GLDC):c.2074C>G (p.Leu692Val)
Condition(s)
- Name:
- Non-ketotic hyperglycinemia
- Synonyms:
- Glycine encephalopathy; Nonketotic hyperglycinemia
- Identifiers:
- MONDO: MONDO:0011612; MedGen: C0751748; Orphanet: 407; OMIM: PS605899; Human Phenotype Ontology: HP:0008288
-
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Homo sapiens cyclin J-like, mRNA (cDNA clone IMAGE:3944075), complete cds
Homo sapiens cyclin J-like, mRNA (cDNA clone IMAGE:3944075), complete cdsgi|33878239|gb|BC013353.2|Nucleotide
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Mrpl22 mitochondrial ribosomal protein L22 [Mus musculus]
Mrpl22 mitochondrial ribosomal protein L22 [Mus musculus]Gene ID:216767Gene
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Last Updated: Sep 29, 2024