NM_021625.4(TRPV4):c.549G>A (p.Glu183=) AND Charcot-Marie-Tooth disease, type 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000345002.1
Allele description
NM_021625.4(TRPV4):c.549G>A (p.Glu183=)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease, type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
Assertion and evidence details
Last Updated: May 4, 2020