NM_021625.5(TRPV4):c.1074C>T (p.Pro358=) AND Spondylometaphyseal dysplasia, Kozlowski type
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001110538.4
Allele description [Variation Report for NM_021625.5(TRPV4):c.1074C>T (p.Pro358=)]
NM_021625.5(TRPV4):c.1074C>T (p.Pro358=)
Condition(s)
- Name:
- Spondylometaphyseal dysplasia, Kozlowski type (SMDK)
- Synonyms:
- Dysmorphism arthrogryposis skeletal maturation advanced; Jequier-Kozlowski syndrome; Skeletal dysplasia Jequier-Kozlowski type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008477; MedGen: C0265280; Orphanet: 93314; OMIM: 184252
Assertion and evidence details
Last Updated: Sep 29, 2024