NM_000170.3(GLDC):c.1931G>T (p.Cys644Phe) AND Non-ketotic hyperglycinemia
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000049463.1
Allele description [Variation Report for NM_000170.3(GLDC):c.1931G>T (p.Cys644Phe)]
NM_000170.3(GLDC):c.1931G>T (p.Cys644Phe)
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
Assertion and evidence details
Last Updated: Jun 9, 2024
SCV000081897