NM_000466.3(PEX1):c.319G>A (p.Glu107Lys) AND Zellweger spectrum disorders
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001974152.5
Allele description [Variation Report for NM_000466.3(PEX1):c.319G>A (p.Glu107Lys)]
NM_000466.3(PEX1):c.319G>A (p.Glu107Lys)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024