NM_000431.4(MVK):c.1097_1100del (p.Asp366fs) 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:
RCV000083817.1

Allele description [Variation Report for NM_000431.4(MVK):c.1097_1100del (p.Asp366fs)]

NM_000431.4(MVK):c.1097_1100del (p.Asp366fs)

Gene:
MVK:mevalonate kinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_000431.4(MVK):c.1097_1100del (p.Asp366fs)
HGVS:
  • NC_000012.12:g.109596483_109596486del
  • NG_007702.1:g.27789_27792del
  • NM_000431.4:c.1097_1100delMANE SELECT
  • NM_001114185.3:c.1097_1100del
  • NM_001301182.2:c.941_944del
  • NP_000422.1:p.Asp366fs
  • NP_001107657.1:p.Asp366fs
  • NP_001288111.1:p.Asp314fs
  • LRG_156:g.27789_27792del
  • NC_000012.11:g.110034288_110034291del
  • NM_000431.1:c.1095_1098delTGAC
Protein change:
D314fs
Links:
dbSNP: rs104895372
NCBI 1000 Genomes Browser:
rs104895372
Molecular consequence:
  • NM_000431.4:c.1097_1100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001114185.3:c.1097_1100del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001301182.2:c.941_944del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000115919Unité 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

SCV000115919

Summary from all submissions

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

Citations

PubMed

Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.

Mandey SH, Schneiders MS, Koster J, Waterham HR.

Hum Mutat. 2006 Aug;27(8):796-802.

PubMed [citation]
PMID:
16835861

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000115919.1

#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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