NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) AND Peroxisome biogenesis disorder 1A (Zellweger)
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 4, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000410455.1
Assertion and evidence details
Last Updated: Aug 23, 2022