NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) AND Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Germline classification:
- Pathogenic (7 submissions)
- Last evaluated:
- May 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000033035.27
Allele description
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)
Condition(s)
Assertion and evidence details
Last Updated: Jul 15, 2024