NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His) AND Lissencephaly
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001291201.4
Allele description [Variation Report for NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His)]
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His)
Condition(s)
- Name:
- Lissencephaly
- Synonyms:
- Lissencephaly spectrum disorders
- Identifiers:
- MONDO: MONDO:0018838; MedGen: C0266463; OMIM: PS607432; Human Phenotype Ontology: HP:0001339
Assertion and evidence details
Last Updated: Feb 14, 2024