NM_000431.4(MVK):c.86del (p.Leu29fs) 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:
RCV000083887.1

Allele description [Variation Report for NM_000431.4(MVK):c.86del (p.Leu29fs)]

NM_000431.4(MVK):c.86del (p.Leu29fs)

Gene:
MVK:mevalonate kinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_000431.4(MVK):c.86del (p.Leu29fs)
HGVS:
  • NC_000012.12:g.109576005del
  • NG_007096.1:g.2493del
  • NG_007702.1:g.7311del
  • NM_000431.4:c.86delMANE SELECT
  • NM_001114185.3:c.86del
  • NM_001301182.2:c.86del
  • NP_000422.1:p.Leu29fs
  • NP_001107657.1:p.Leu29fs
  • NP_001288111.1:p.Leu29fs
  • LRG_156:g.7311del
  • NC_000012.11:g.110013810del
  • NM_000431.1:c.86delT
Protein change:
L29fs
Links:
dbSNP: rs104895381
NCBI 1000 Genomes Browser:
rs104895381
Molecular consequence:
  • NM_000431.4:c.86del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001114185.3:c.86del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001301182.2:c.86del - 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
SCV000115993Unité médicale des maladies autoinflammatoires, CHRU Montpellierno assertion providednot providednot providednot provided

Description

also involved in OMIM 25117

SCV000115993

Summary from all submissions

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

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000115993.1

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

Last Updated: Apr 17, 2020

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