NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter) AND Spondylometaphyseal dysplasia, Kozlowski type
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 11, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001109837.4
Allele description [Variation Report for NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter)]
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter)
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
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Nucleotide Links for Protein (Select 767958757) (2)
Nucleotide
-
txid1789789[Organism:noexp] (2)
PMC
-
Taxonomy Links for Protein (Select 2217313442) (1)
Taxonomy
-
Nucleotide Links for Protein (Select 1021312098) (3)
Nucleotide
-
Related Structures (List) for Protein (Select 126098274) (6)
Structure
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Last Updated: May 1, 2024