NM_001160372.4(TRAPPC9):c.1420A>G (p.Met474Val) AND Intellectual Disability, Recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000293136.6
Allele description [Variation Report for NM_001160372.4(TRAPPC9):c.1420A>G (p.Met474Val)]
NM_001160372.4(TRAPPC9):c.1420A>G (p.Met474Val)
Condition(s)
- Name:
- Intellectual Disability, Recessive
- Identifiers:
- MedGen: CN239290
Assertion and evidence details
Last Updated: Apr 9, 2023