NM_000430.4(PAFAH1B1):c.829dup (p.His277fs) AND Lissencephaly due to LIS1 mutation
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 8, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000195211.1
Allele description
NM_000430.4(PAFAH1B1):c.829dup (p.His277fs)
Condition(s)
- Name:
- Lissencephaly due to LIS1 mutation (LIS1)
- Synonyms:
- Isolated Lissencephaly Sequence; Lissencephaly classic; Type I lissencephaly; See all synonyms [MedGen]
- Identifiers:
- MedGen: C4749301; OMIM: 607432; Human Phenotype Ontology: HP:0006818
Assertion and evidence details
Last Updated: May 27, 2021