NM_000170.3(GLDC):c.2197G>T (p.Ala733Ser) AND Non-ketotic hyperglycinemia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002714950.3
Allele description [Variation Report for NM_000170.3(GLDC):c.2197G>T (p.Ala733Ser)]
NM_000170.3(GLDC):c.2197G>T (p.Ala733Ser)
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
-
Botrytis cinerea B05.10 chromosome 13, complete sequence
Botrytis cinerea B05.10 chromosome 13, complete sequencegi|1377780748|ref|NC_037322.1||gnl| CF_000143535.2|13Nucleotide
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Last Updated: Sep 29, 2024