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NM_021625.5(TRPV4):c.590A>G (p.Lys197Arg) AND Metatropic dysplasia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2010
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000023428.13

Allele description [Variation Report for NM_021625.5(TRPV4):c.590A>G (p.Lys197Arg)]

NM_021625.5(TRPV4):c.590A>G (p.Lys197Arg)

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_021625.5(TRPV4):c.590A>G (p.Lys197Arg)
HGVS:
  • NC_000012.12:g.109803113T>C
  • NG_017090.1:g.35295A>G
  • NM_001177428.1:c.590A>G
  • NM_001177431.1:c.488A>G
  • NM_001177433.1:c.590A>G
  • NM_021625.5:c.590A>GMANE SELECT
  • NM_147204.2:c.590A>G
  • NP_001170899.1:p.Lys197Arg
  • NP_001170902.1:p.Lys163Arg
  • NP_001170904.1:p.Lys197Arg
  • NP_067638.3:p.Lys197Arg
  • NP_671737.1:p.Lys197Arg
  • LRG_372t1:c.590A>G
  • LRG_372:g.35295A>G
  • LRG_372p1:p.Lys197Arg
  • NC_000012.11:g.110240918T>C
  • NM_021625.4:c.590A>G
  • Q9HBA0:p.Lys197Arg
Protein change:
K163R; LYS197ARG
Links:
UniProtKB: Q9HBA0#VAR_064519; OMIM: 605427.0024; dbSNP: rs387906903
NCBI 1000 Genomes Browser:
rs387906903
Molecular consequence:
  • NM_001177428.1:c.590A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177431.1:c.488A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177433.1:c.590A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021625.5:c.590A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_147204.2:c.590A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Metatropic dysplasia (MTD)
Synonyms:
Metatropic dwarfism; Metatropic dysplasia, nonlethal dominant
Identifiers:
MONDO: MONDO:0007986; MedGen: C0265281; Orphanet: 2635; OMIM: 156530

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044719OMIM
no assertion criteria provided
Pathogenic
(May 1, 2010) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.

Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, Vriens J, Nilius B, Boyce BF, Cohn DH.

Am J Med Genet A. 2010 May;152A(5):1169-77. doi: 10.1002/ajmg.a.33392.

PubMed [citation]
PMID:
20425821
PMCID:
PMC4169191

Details of each submission

From OMIM, SCV000044719.4

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

Description

In a patient with lethal infantile metatropic dysplasia (MTD; 156530), Camacho et al. (2010) identified heterozygosity for a c.590A-G transition in exon 4 of the TRPV4 gene, resulting in a lys197-to-arg (K197R) substitution in the ANK2 domain.

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

Last Updated: Sep 16, 2024