NM_000288.4(PEX7):c.592C>T (p.Gln198Ter) AND Peroxisome biogenesis disorder 9B
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001234064.6
Allele description [Variation Report for NM_000288.4(PEX7):c.592C>T (p.Gln198Ter)]
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024