NM_000318.3(PEX2):c.275A>C (p.Asn92Thr) AND Peroxisome biogenesis disorder 5A (Zellweger)
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 16, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001879645.3
Allele description [Variation Report for NM_000318.3(PEX2):c.275A>C (p.Asn92Thr)]
NM_000318.3(PEX2):c.275A>C (p.Asn92Thr)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024