NM_000431.4(MVK):c.75C>T (p.Gly25=) 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:
RCV000083869.1

Allele description [Variation Report for NM_000431.4(MVK):c.75C>T (p.Gly25=)]

NM_000431.4(MVK):c.75C>T (p.Gly25=)

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.75C>T (p.Gly25=)
HGVS:
  • NC_000012.12:g.109574897C>T
  • NG_007096.1:g.3601G>A
  • NG_007702.1:g.6203C>T
  • NM_000431.4:c.75C>TMANE SELECT
  • NM_001114185.3:c.75C>T
  • NM_001301182.2:c.75C>T
  • NP_000422.1:p.Gly25=
  • NP_001107657.1:p.Gly25=
  • NP_001288111.1:p.Gly25=
  • LRG_156:g.6203C>T
  • NC_000012.11:g.110012702C>T
  • NM_000431.1:c.75C>T
Links:
dbSNP: rs104895330
NCBI 1000 Genomes Browser:
rs104895330
Molecular consequence:
  • NM_000431.4:c.75C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001114185.3:c.75C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001301182.2:c.75C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000115974Unité 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

SCV000115974

Summary from all submissions

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

Citations

PubMed

Pseudodominant inheritance of the hyperimmunoglobulinemia D with periodic fever syndrome in a mother and her two monozygotic twins.

Hospach T, Lohse P, Heilbronner H, Dannecker GE, Lohse P.

Arthritis Rheum. 2005 Nov;52(11):3606-10.

PubMed [citation]
PMID:
16255052

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000115974.1

#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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