NM_000318.3(PEX2):c.614T>G (p.Ile205Ser) AND Peroxisome biogenesis disorder 5A (Zellweger)
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002765690.3
Allele description [Variation Report for NM_000318.3(PEX2):c.614T>G (p.Ile205Ser)]
NM_000318.3(PEX2):c.614T>G (p.Ile205Ser)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024