NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp) AND TRPV4-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004547612.1
Allele description [Variation Report for NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp)]
NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp)
Condition(s)
- Name:
- TRPV4-related disorder
- Synonyms:
- TRPV4-related disorders; TRPV4-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Oct 26, 2024