NM_021625.5(TRPV4):c.991A>T (p.Ile331Phe) AND Skeletal dysplasia
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000202518.10
Allele description [Variation Report for NM_021625.5(TRPV4):c.991A>T (p.Ile331Phe)]
NM_021625.5(TRPV4):c.991A>T (p.Ile331Phe)
Condition(s)
- Name:
- Skeletal dysplasia
- Synonyms:
- Primary bone dysplasia
- Identifiers:
- MONDO: MONDO:0018230; MedGen: C0410528; Human Phenotype Ontology: HP:0002652
Assertion and evidence details
Last Updated: Oct 13, 2024