NM_004813.4(PEX16):c.918G>A (p.Leu306=) AND Peroxisome biogenesis disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002870726.2
Allele description [Variation Report for NM_004813.4(PEX16):c.918G>A (p.Leu306=)]
NM_004813.4(PEX16):c.918G>A (p.Leu306=)
Condition(s)
- Name:
- Peroxisome biogenesis disorder (PBD, ZSS)
- Synonyms:
- PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE); INFANTILE PHYTANIC ACID STORAGE DISEASE; PEROXISOME BIOGENESIS DISORDER (NALD/IRD); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0019234; MedGen: C1832200; OMIM: PS214100
Assertion and evidence details
Last Updated: Feb 20, 2024