NM_000318.3(PEX2):c.320_326del (p.Ala107fs) AND Peroxisome biogenesis disorder 5A (Zellweger)
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003649622.1
Allele description [Variation Report for NM_000318.3(PEX2):c.320_326del (p.Ala107fs)]
NM_000318.3(PEX2):c.320_326del (p.Ala107fs)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024