NM_000466.3(PEX1):c.404G>A (p.Arg135Gln) AND Zellweger spectrum disorders
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002022182.6
Allele description [Variation Report for NM_000466.3(PEX1):c.404G>A (p.Arg135Gln)]
NM_000466.3(PEX1):c.404G>A (p.Arg135Gln)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024