NM_005548.3(KARS1):c.599C>T (p.Pro200Leu) AND Charcot-Marie-Tooth disease recessive intermediate B
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003147413.1
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)
Assertion and evidence details
Last Updated: Jun 23, 2024