NM_000431.4(MVK):c.104T>C (p.Leu35Ser) 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:
RCV000083815.1

Allele description [Variation Report for NM_000431.4(MVK):c.104T>C (p.Leu35Ser)]

NM_000431.4(MVK):c.104T>C (p.Leu35Ser)

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.104T>C (p.Leu35Ser)
HGVS:
  • NC_000012.12:g.109576023T>C
  • NG_007096.1:g.2475A>G
  • NG_007702.1:g.7329T>C
  • NM_000431.4:c.104T>CMANE SELECT
  • NM_001114185.3:c.104T>C
  • NM_001301182.2:c.104T>C
  • NP_000422.1:p.Leu35Ser
  • NP_001107657.1:p.Leu35Ser
  • NP_001288111.1:p.Leu35Ser
  • LRG_156:g.7329T>C
  • NC_000012.11:g.110013828T>C
  • NM_000431.1:c.104T>C
Protein change:
L35S
Links:
dbSNP: rs104895313
NCBI 1000 Genomes Browser:
rs104895313
Molecular consequence:
  • NM_000431.4:c.104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114185.3:c.104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301182.2:c.104T>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
SCV000115917Unité 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

SCV000115917

Summary from all submissions

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

Citations

PubMed

Overt and occult rheumatic diseases: the child with chronic fever.

Frenkel J, Kuis W.

Best Pract Res Clin Rheumatol. 2002 Jul;16(3):443-69. Review.

PubMed [citation]
PMID:
12387810

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000115917.1

#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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