NM_005271.5(GLUD1):c.1442A>T (p.His481Leu) AND Hyperinsulinism-hyperammonemia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000641058.6
Allele description [Variation Report for NM_005271.5(GLUD1):c.1442A>T (p.His481Leu)]
NM_005271.5(GLUD1):c.1442A>T (p.His481Leu)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024