NM_000286.3(PEX12):c.329dup (p.Gln111fs) AND Peroxisome biogenesis disorder 3A (Zellweger)
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003476799.1
Allele description [Variation Report for NM_000286.3(PEX12):c.329dup (p.Gln111fs)]
NM_000286.3(PEX12):c.329dup (p.Gln111fs)
Condition(s)
Assertion and evidence details
Last Updated: Dec 30, 2023