NM_002693.2(POLG):c.578G>A (p.Arg193Gln) AND Mitochondrial diseases

Clinical significance:Benign (Last evaluated: Oct 11, 2012)

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:
RCV000020482.1

Allele description [Variation Report for NM_002693.2(POLG):c.578G>A (p.Arg193Gln)]

NM_002693.2(POLG):c.578G>A (p.Arg193Gln)

Gene:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.2(POLG):c.578G>A (p.Arg193Gln)
Other names:
p.R193Q:CGG>CAG
HGVS:
  • NC_000015.10:g.89333177C>T
  • NG_008218.2:g.6619G>A
  • NM_002693.2:c.578G>A
  • NP_002684.1:p.Arg193Gln
  • LRG_765t1:c.578G>A
  • LRG_765:g.6619G>A
  • LRG_765p1:p.Arg193Gln
  • NC_000015.9:g.89876408C>T
  • NG_008218.1:g.6619G>A
  • P54098:p.Arg193Gln
Protein change:
R193Q
Links:
UniProtKB: P54098#VAR_019267; dbSNP: rs3176162
NCBI 1000 Genomes Browser:
rs3176162
Molecular consequence:
  • NM_002693.2:c.578G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mitochondrial diseases
Synonyms:
Mitochondrial disease
Identifiers:
MedGen: C0751651

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000040919GeneReviewsno assertion criteria providedbenign
(Oct 11, 2012)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000040919.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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