NM_001033044.4(GLUL):c.347C>T (p.Thr116Ile) AND Congenital brain dysgenesis due to glutamine synthetase deficiency
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Sep 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001100186.6
Allele description [Variation Report for NM_001033044.4(GLUL):c.347C>T (p.Thr116Ile)]
NM_001033044.4(GLUL):c.347C>T (p.Thr116Ile)
Condition(s)
- Name:
- Congenital brain dysgenesis due to glutamine synthetase deficiency (GLND)
- Synonyms:
- GLUTAMINE SYNTHASE DEFICIENCY, CONGENITAL SYSTEMIC; Glutamine deficiency, congenital; Glutamine synthetase deficiency, congenital systemic
- Identifiers:
- MONDO: MONDO:0012393; MedGen: C1864910; Orphanet: 71278; OMIM: 610015
Assertion and evidence details
Last Updated: May 7, 2024