NM_000431.4(MVK):c.404C>T (p.Ser135Leu) AND Hyperimmunoglobulin D with periodic fever

Clinical significance:not provided

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

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000083839.1

Allele description [Variation Report for NM_000431.4(MVK):c.404C>T (p.Ser135Leu)]

NM_000431.4(MVK):c.404C>T (p.Ser135Leu)

Gene:
MVK:mevalonate kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_000431.4(MVK):c.404C>T (p.Ser135Leu)
HGVS:
  • NC_000012.12:g.109581427C>T
  • NG_007702.1:g.12733C>T
  • NM_000431.4:c.404C>TMANE SELECT
  • NM_001114185.3:c.404C>T
  • NM_001301182.2:c.371+1481C>T
  • NP_000422.1:p.Ser135Leu
  • NP_001107657.1:p.Ser135Leu
  • LRG_156:g.12733C>T
  • NC_000012.11:g.110019232C>T
  • NM_000431.1:c.404C>T
  • Q03426:p.Ser135Leu
Protein change:
S135L
Links:
UniProtKB: Q03426#VAR_010959; dbSNP: rs104895297
NCBI 1000 Genomes Browser:
rs104895297
Molecular consequence:
  • NM_001301182.2:c.371+1481C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000431.4:c.404C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114185.3:c.404C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hyperimmunoglobulin D with periodic fever (HIDS)
Synonyms:
Hyperimmunoglobulinemia D and periodic fever syndrome; Periodic fever Dutch type; Hyperimmunoglobulinemia D
Identifiers:
MONDO: MONDO:0009849; MedGen: C0398691; Orphanet: 343; OMIM: 260920

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000115941Unité médicale des maladies autoinflammatoires, CHRU Montpellierno assertion providednot providednot providednot provided

PubMed (2)
[See all records that cite these PMIDs]

Description

also involved in OMIM 25117

SCV000115941

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.

Cuisset L, Drenth JP, Simon A, Vincent MF, van der Velde Visser S, van der Meer JW, Grateau G, Delpech M; International Hyper-IgD Study Group..

Eur J Hum Genet. 2001 Apr;9(4):260-6.

PubMed [citation]
PMID:
11313769

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.

Houten SM, Koster J, Romeijn GJ, Frenkel J, Di Rocco M, Caruso U, Landrieu P, Kelley RI, Kuis W, Poll-The BT, Gibson KM, Wanders RJ, Waterham HR.

Eur J Hum Genet. 2001 Apr;9(4):253-9. Erratum in: Eur J Hum Genet 2001 Aug;9(8):651.

PubMed [citation]
PMID:
11313768

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000115941.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Jul 13, 2021

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