NM_000287.4(PEX6):c.2735C>T (p.Ala912Val) AND Peroxisome biogenesis disorder 4A (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:
- RCV001823180.3
Allele description [Variation Report for NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)]
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024