NM_000166.6(GJB1):c.423C>G (p.Phe141Leu) AND Charcot-Marie-Tooth disease X-linked dominant 1
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Jul 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003993995.2
Allele description [Variation Report for NM_000166.6(GJB1):c.423C>G (p.Phe141Leu)]
NM_000166.6(GJB1):c.423C>G (p.Phe141Leu)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease X-linked dominant 1
- Synonyms:
- CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1; CMTX 1; Charcot-Marie-Tooth peroneal muscular atrophy, X-linked; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010549; MedGen: C0393808; Orphanet: 101075; OMIM: 302800
Assertion and evidence details
Last Updated: Aug 4, 2024