NM_000431.4(MVK):c.-13_78+1del 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:
RCV000083811.1

Allele description [Variation Report for NM_000431.4(MVK):c.-13_78+1del]

NM_000431.4(MVK):c.-13_78+1del

Gene:
MVK:mevalonate kinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_000431.4(MVK):c.-13_78+1del
HGVS:
  • NC_000012.12:g.109574810_109574901del
  • NG_007096.1:g.3600_3691del
  • NG_007702.1:g.6116_6207del
  • NM_000431.4:c.-13_78+1delMANE SELECT
  • NM_001114185.3:c.-5-8_78+1del
  • NM_001301182.2:c.-13_78+1del
  • LRG_156:g.6116_6207del
  • NC_000012.11:g.110012615_110012706del
  • NM_000431.1:c.-14_78del
Links:
dbSNP: rs104895309
NCBI 1000 Genomes Browser:
rs104895309
Molecular consequence:
  • NM_000431.4:c.-13_78+1del - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001114185.3:c.-5-8_78+1del - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001301182.2:c.-13_78+1del - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_000431.4:c.-13_78+1del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001114185.3:c.-5-8_78+1del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001301182.2:c.-13_78+1del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_000431.4:c.-13_78+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001114185.3:c.-5-8_78+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001301182.2:c.-13_78+1del - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000115912Unité médicale des maladies autoinflammatoires, CHRU Montpellierno assertion providednot providednot providednot provided

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

Description

also involved in OMIM 25117

SCV000115912

Summary from all submissions

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

Citations

PubMed

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, Beckmann JS, van der Meer JW, Delpech M.

Nat Genet. 1999 Jun;22(2):178-81.

PubMed [citation]
PMID:
10369262

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000115912.1

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

Last Updated: Apr 17, 2020

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