NM_005548.3(KARS1):c.599C>T (p.Pro200Leu) AND KARS1-related disorder
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001526444.4
Allele description [Variation Report for NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)]
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)
Condition(s)
- Name:
- KARS1-related disorder
- Identifiers:
Assertion and evidence details
Last Updated: Jun 9, 2024