NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) AND PLOD1-related condition
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003904842.1
Allele description [Variation Report for NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter)]
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter)
Condition(s)
- Name:
- PLOD1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 1, 2024