NM_015697.8(COQ2):c.590G>A (p.Arg197His) AND Coenzyme Q10 deficiency, primary

Clinical significance:Pathogenic (Last evaluated: Jun 7, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000416395.1

Allele description [Variation Report for NM_015697.8(COQ2):c.590G>A (p.Arg197His)]

NM_015697.8(COQ2):c.590G>A (p.Arg197His)

Gene:
COQ2:coenzyme Q2, polyprenyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q21.23
Genomic location:
Preferred name:
NM_015697.8(COQ2):c.590G>A (p.Arg197His)
HGVS:
  • NC_000004.12:g.83273598C>T
  • NG_015825.1:g.16317G>A
  • NM_015697.8:c.590G>A
  • NP_056512.5:p.Arg197His
  • NC_000004.11:g.84194751C>T
  • NM_015697.7:c.590G>A
Protein change:
R197H; ARG197HIS
Links:
OMIM: 609825.0003; dbSNP: rs121918231
NCBI 1000 Genomes Browser:
rs121918231
Molecular consequence:
  • NM_015697.8:c.590G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Coenzyme Q10 deficiency, primary
Synonyms:
Coenzyme Q10 deficiency
Identifiers:
MedGen: CN229570; OMIM: PS607426

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000494122GeneReviewsno assertion criteria providedPathogenic
(Jun 7, 2016)
germlineliterature only

Citation Link

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV000494122.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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