NM_000431.4(MVK):c.1132T>C (p.Ser378Pro) 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:
RCV000083820.1

Allele description [Variation Report for NM_000431.4(MVK):c.1132T>C (p.Ser378Pro)]

NM_000431.4(MVK):c.1132T>C (p.Ser378Pro)

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.1132T>C (p.Ser378Pro)
HGVS:
  • NC_000012.12:g.109596518T>C
  • NG_007702.1:g.27824T>C
  • NM_000431.4:c.1132T>CMANE SELECT
  • NM_001114185.3:c.1132T>C
  • NM_001301182.2:c.976T>C
  • NP_000422.1:p.Ser378Pro
  • NP_001107657.1:p.Ser378Pro
  • NP_001288111.1:p.Ser326Pro
  • LRG_156:g.27824T>C
  • NC_000012.11:g.110034323T>C
  • NM_000431.1:c.1132T>C
Protein change:
S326P
Links:
dbSNP: rs104895349
NCBI 1000 Genomes Browser:
rs104895349
Molecular consequence:
  • NM_000431.4:c.1132T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114185.3:c.1132T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301182.2:c.976T>C - 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
SCV000115922Unité 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

SCV000115922

Summary from all submissions

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

Citations

PubMed

Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation.

Hoffmann F, Lohse P, Stojanov S, Shin YS, Renner ED, Kéry A, Zellerer S, Belohradsky BH.

Eur J Hum Genet. 2005 Apr;13(4):510-2.

PubMed [citation]
PMID:
15657603

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000115922.1

#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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