NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser) AND Charcot-Marie-Tooth disease, type I
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003581727.2
Allele description [Variation Report for NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser)]
NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease, type I (CMT1)
- Synonyms:
- Charcot-Marie-Tooth Neuropathy Type 1; Hereditary Motor and Sensory Neuropathy 1; Charcot-Marie-Tooth, Type 1
- Identifiers:
- MONDO: MONDO:0019011; MedGen: C0751036
Assertion and evidence details
Last Updated: Sep 29, 2024