NM_000318.3(PEX2):c.798C>T (p.Phe266=) AND Peroxisome biogenesis disorder 5A (Zellweger)
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001444167.7
Allele description [Variation Report for NM_000318.3(PEX2):c.798C>T (p.Phe266=)]
NM_000318.3(PEX2):c.798C>T (p.Phe266=)
Condition(s)
-
Chain A, Guanylate-binding protein 2
Chain A, Guanylate-binding protein 2gi|1967569013|pdb|6VKJ|AProtein
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Last Updated: Sep 29, 2024