NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp) AND Charcot-Marie-Tooth disease axonal type 2C
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 21, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000230906.11
Allele description
NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease axonal type 2C (HMSN2C)
- Synonyms:
- Charcot-Marie-Tooth disease type 2C; Hereditary motor and sensory neuropathy 2 C; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011633; MedGen: C1853710; OMIM: 606071
Assertion and evidence details
Last Updated: Sep 16, 2024