NM_000466.3(PEX1):c.833C>G (p.Ser278Ter) AND Zellweger spectrum disorders
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002912654.2
Allele description [Variation Report for NM_000466.3(PEX1):c.833C>G (p.Ser278Ter)]
NM_000466.3(PEX1):c.833C>G (p.Ser278Ter)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024