NM_000431.4(MVK):c.372_527del (p.Ala125_Arg176del) 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:
RCV000083836.1

Allele description [Variation Report for NM_000431.4(MVK):c.372_527del (p.Ala125_Arg176del)]

NM_000431.4(MVK):c.372_527del (p.Ala125_Arg176del)

Gene:
MVK:mevalonate kinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Preferred name:
NM_000431.4(MVK):c.372_527del (p.Ala125_Arg176del)
HGVS:
  • NC_000012.12:g.109581396_109581551del
  • NG_007702.1:g.12702_12857del
  • NM_000431.4:c.373_527+1delMANE SELECT
  • NM_001114185.3:c.373_527+1del
  • NM_001301182.2:c.371+1450_371+1605del
  • LRG_156:g.12702_12857del
  • NC_000012.11:g.110019201_110019356del
  • NM_000431.1:c.372_527del
  • NM_000431.4:c.372_527delMANE SELECT
Note:
The genomic location for this variant will not be computed from alignment of the transcript sequence to the genome until there is experimental evidence for the genomic basis of the loss of exons from the cDNA.
Links:
dbSNP: rs104895310
Molecular consequence:
  • NM_001301182.2:c.371+1450_371+1605del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000431.4:c.373_527+1del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001114185.3:c.373_527+1del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_000431.4:c.373_527+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001114185.3:c.373_527+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
SCV000115938Unité 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

SCV000115938

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

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000115938.1

#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: Aug 5, 2021

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