NM_000466.3(PEX1):c.2044G>A (p.Ala682Thr) AND Zellweger spectrum disorders
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001887241.4
Allele description [Variation Report for NM_000466.3(PEX1):c.2044G>A (p.Ala682Thr)]
NM_000466.3(PEX1):c.2044G>A (p.Ala682Thr)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024