NM_014905.5(GLS):c.189G>T (p.Trp63Cys) AND Global developmental delay, progressive ataxia, and elevated glutamine
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003445332.2
Allele description [Variation Report for NM_014905.5(GLS):c.189G>T (p.Trp63Cys)]
NM_014905.5(GLS):c.189G>T (p.Trp63Cys)
Condition(s)
Assertion and evidence details
Last Updated: Apr 6, 2024