NM_021625.4(TRPV4):c.832G>A (p.Glu278Lys) AND Spondylometaphyseal dysplasia, Kozlowski type

Clinical significance:Pathogenic (Last evaluated: Oct 1, 2010)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000005302.3

Allele description [Variation Report for NM_021625.4(TRPV4):c.832G>A (p.Glu278Lys)]

NM_021625.4(TRPV4):c.832G>A (p.Glu278Lys)

Gene:
TRPV4:transient receptor potential cation channel subfamily V member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_021625.4(TRPV4):c.832G>A (p.Glu278Lys)
HGVS:
  • NC_000012.12:g.109800639C>T
  • NG_017090.1:g.37769G>A
  • NM_001177428.1:c.713-1727G>A
  • NM_021625.4:c.832G>A
  • NP_067638.3:p.Glu278Lys
  • LRG_372t1:c.832G>A
  • LRG_372:g.37769G>A
  • LRG_372p1:p.Glu278Lys
  • NC_000012.11:g.110238444C>T
  • Q9HBA0:p.Glu278Lys
Protein change:
E278K; GLU278LYS
Links:
UniProtKB: Q9HBA0#VAR_064521; OMIM: 605427.0017; dbSNP: rs267607148
NCBI 1000 Genomes Browser:
rs267607148
Molecular consequence:
  • NM_001177428.1:c.713-1727G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_021625.4:c.832G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Spondylometaphyseal dysplasia, Kozlowski type (SMDK)
Identifiers:
MedGen: C0265280; Orphanet: 93314; OMIM: 184252

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000025480OMIMno assertion criteria providedPathogenic
(Oct 1, 2010)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, et al.

J Med Genet. 2010 Oct;47(10):704-9. doi: 10.1136/jmg.2009.075358. Epub 2010 Jun 24.

PubMed [citation]
PMID:
20577006

Details of each submission

From OMIM, SCV000025480.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 patients with the Kozlowski type of spondylometaphyseal dysplasia (SMDK; 184252), Dai et al. (2010) identified heterozygosity for an 832G-A transition in exon 5 of the TRPV4 gene, resulting in a glu278-to-lys (E278K) substitution at an evolutionarily conserved residue in the ANK3 domain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 21, 2018