NM_000530.8(MPZ):c.178G>C (p.Asp60His) AND Charcot-Marie-Tooth disease type 1B
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002226649.1
Allele description [Variation Report for NM_000530.8(MPZ):c.178G>C (p.Asp60His)]
NM_000530.8(MPZ):c.178G>C (p.Asp60His)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 1B
- Synonyms:
- CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1B; CHARCOT-MARIE-TOOTH DISEASE, SLOW NERVE CONDUCTION TYPE, LINKED TO DUFFY; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007307; MedGen: C0270912; Orphanet: 101082; OMIM: 118200
Assertion and evidence details
Last Updated: Feb 14, 2024