NM_000466.3(PEX1):c.1011G>A (p.Lys337=) AND Peroxisome biogenesis disorder 1A (Zellweger)
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000906584.7
Allele description [Variation Report for NM_000466.3(PEX1):c.1011G>A (p.Lys337=)]
NM_000466.3(PEX1):c.1011G>A (p.Lys337=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024