NM_000481.4(AMT):c.1209del (p.Lys403fs) AND Non-ketotic hyperglycinemia
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Mar 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000670446.4
Allele description [Variation Report for NM_000481.4(AMT):c.1209del (p.Lys403fs)]
NM_000481.4(AMT):c.1209del (p.Lys403fs)
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: Feb 20, 2024