NM_000287.4(PEX6):c.2663G>C (p.Arg888Pro) AND Peroxisome biogenesis disorder 4A (Zellweger)
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001197230.2
Allele description [Variation Report for NM_000287.4(PEX6):c.2663G>C (p.Arg888Pro)]
NM_000287.4(PEX6):c.2663G>C (p.Arg888Pro)
Condition(s)
Assertion and evidence details
Last Updated: Jul 7, 2024