NM_000430.4(PAFAH1B1):c.144dup (p.Gly49fs) AND Lissencephaly due to LIS1 mutation
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003228782.1
Allele description [Variation Report for NM_000430.4(PAFAH1B1):c.144dup (p.Gly49fs)]
NM_000430.4(PAFAH1B1):c.144dup (p.Gly49fs)
Condition(s)
Assertion and evidence details
Last Updated: Sep 9, 2023