NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) AND Inborn genetic diseases
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 4, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000622431.10
Allele description [Variation Report for NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)]
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Jul 7, 2024