NM_002437.5(MPV17):c.359G>A (p.Trp120Ter) AND Charcot-Marie-Tooth disease, axonal, type 2EE
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003466862.1
Allele description [Variation Report for NM_002437.5(MPV17):c.359G>A (p.Trp120Ter)]
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024