NM_004813.4(PEX16):c.859C>T (p.Arg287Cys) AND Peroxisome biogenesis disorder 8A (Zellweger)
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003152611.1
Allele description [Variation Report for NM_004813.4(PEX16):c.859C>T (p.Arg287Cys)]
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024