NM_000318.3(PEX2):c.152G>A (p.Arg51His) AND Peroxisome biogenesis disorder 5A (Zellweger)
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001325959.2
Allele description [Variation Report for NM_000318.3(PEX2):c.152G>A (p.Arg51His)]
NM_000318.3(PEX2):c.152G>A (p.Arg51His)
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024