NM_004565.3(PEX14):c.699A>G (p.Pro233=) AND Peroxisome biogenesis disorder, complementation group K
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002633279.2
Allele description [Variation Report for NM_004565.3(PEX14):c.699A>G (p.Pro233=)]
NM_004565.3(PEX14):c.699A>G (p.Pro233=)
Condition(s)
- Name:
- Peroxisome biogenesis disorder, complementation group K (CGK)
- Identifiers:
- MONDO: MONDO:0800365; MedGen: C1866257
Assertion and evidence details
Last Updated: Feb 20, 2024