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
-
Proteobacterium MS-F-12 16S ribosomal RNA gene, partial sequence
Proteobacterium MS-F-12 16S ribosomal RNA gene, partial sequencegi|217314675|gb|FJ460057.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 1, 2024