NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys) AND Charcot-Marie-Tooth disease axonal type 2C
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001851964.13
Allele description [Variation Report for NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)]
NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)
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 1, 2024