NM_021625.5(TRPV4):c.650C>T (p.Ala217Val) AND Spondylometaphyseal dysplasia, Kozlowski type
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000344222.5
Allele description [Variation Report for NM_021625.5(TRPV4):c.650C>T (p.Ala217Val)]
NM_021625.5(TRPV4):c.650C>T (p.Ala217Val)
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
-
PHAVU_010G123100g [Phaseolus vulgaris]
PHAVU_010G123100g [Phaseolus vulgaris]Gene ID:18618225Gene
-
PHAVU_009G120600g [Phaseolus vulgaris]
PHAVU_009G120600g [Phaseolus vulgaris]Gene ID:18619903Gene
-
PHAVU_010G137800g [Phaseolus vulgaris]
PHAVU_010G137800g [Phaseolus vulgaris]Gene ID:18618374Gene
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Last Updated: Sep 29, 2024