NM_000170.3(GLDC):c.2105C>T (p.Thr702Ile) 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:
- RCV000049468.1
Allele description [Variation Report for NM_000170.3(GLDC):c.2105C>T (p.Thr702Ile)]
NM_000170.3(GLDC):c.2105C>T (p.Thr702Ile)
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
-
KIRREL1 [Chelonia mydas]
KIRREL1 [Chelonia mydas]Gene ID:102941508Gene
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See more...Assertion and evidence details
Last Updated: Jun 9, 2024
SCV000081902