NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys) AND Charcot-Marie-Tooth disease axonal type 2L
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001109057.5
Allele description [Variation Report for NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys)]
NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease axonal type 2L
- Synonyms:
- CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2L; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2L; Charcot-Marie-Tooth disease, type 2L; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012096; MedGen: C1837552; Orphanet: 99945; OMIM: 608673
Assertion and evidence details
Last Updated: May 12, 2024