NM_000304.4(PMP22):c.124T>C (p.Cys42Arg) AND Charcot-Marie-Tooth disease, type IA
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003152871.1
Allele description [Variation Report for NM_000304.4(PMP22):c.124T>C (p.Cys42Arg)]
NM_000304.4(PMP22):c.124T>C (p.Cys42Arg)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease, type IA (CMT1A)
- Synonyms:
- CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1A; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A; HEREDITARY MOTOR AND SENSORY NEUROPATHY IA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007309; MedGen: C0270911; Orphanet: 101081; OMIM: 118220
Assertion and evidence details
Last Updated: Feb 20, 2024