NM_000431.4(MVK):c.748G>A (p.Val250Ile) 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:
RCV000083868.1

Allele description [Variation Report for NM_000431.4(MVK):c.748G>A (p.Val250Ile)]

NM_000431.4(MVK):c.748G>A (p.Val250Ile)

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.748G>A (p.Val250Ile)
HGVS:
  • NC_000012.12:g.109590841G>A
  • NG_007702.1:g.22147G>A
  • NM_000431.4:c.748G>AMANE SELECT
  • NM_001114185.3:c.748G>A
  • NM_001301182.2:c.592G>A
  • NP_000422.1:p.Val250Ile
  • NP_001107657.1:p.Val250Ile
  • NP_001288111.1:p.Val198Ile
  • LRG_156:g.22147G>A
  • NC_000012.11:g.110028646G>A
  • NM_000431.1:c.748G>A
  • Q03426:p.Val250Ile
Protein change:
V198I
Links:
UniProtKB: Q03426#VAR_029523; dbSNP: rs104895339
NCBI 1000 Genomes Browser:
rs104895339
Molecular consequence:
  • NM_000431.4:c.748G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114185.3:c.748G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301182.2:c.592G>A - 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
SCV000115973Unité 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

SCV000115973

Summary from all submissions

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

Citations

PubMed

MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.

D'Osualdo A, Picco P, Caroli F, Gattorno M, Giacchino R, Fortini P, Corona F, Tommasini A, Salvi G, Specchia F, Obici L, Meini A, Ricci A, Seri M, Ravazzolo R, Martini A, Ceccherini I.

Eur J Hum Genet. 2005 Mar;13(3):314-20.

PubMed [citation]
PMID:
15536479

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000115973.1

#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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