NM_000430.4(PAFAH1B1):c.703_704del (p.Glu235fs) AND Lissencephaly due to LIS1 mutation
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Sep 10, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000192866.10
Allele description [Variation Report for NM_000430.4(PAFAH1B1):c.703_704del (p.Glu235fs)]
NM_000430.4(PAFAH1B1):c.703_704del (p.Glu235fs)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024