NM_006009.4(TUBA1A):c.1298AGG[1] (p.Glu434del) AND multiple conditions
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001249347.2
Allele description [Variation Report for NM_006009.4(TUBA1A):c.1298AGG[1] (p.Glu434del)]
NM_006009.4(TUBA1A):c.1298AGG[1] (p.Glu434del)
Condition(s)
- Name:
- Lissencephaly
- Synonyms:
- Lissencephaly spectrum disorders
- Identifiers:
- MONDO: MONDO:0018838; MedGen: C0266463; OMIM: PS607432; Human Phenotype Ontology: HP:0001339
- Name:
- Polymicrogyria
- Identifiers:
- MONDO: MONDO:0000087; MedGen: C0266464; Human Phenotype Ontology: HP:0002126
Assertion and evidence details
Last Updated: May 1, 2024