NM_002693.2(POLG):c.1550G>T (p.Gly517Val) AND Camptocormia

Clinical significance:Pathogenic (Last evaluated: Jan 1, 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:
RCV000186556.1

Allele description [Variation Report for NM_002693.2(POLG):c.1550G>T (p.Gly517Val)]

NM_002693.2(POLG):c.1550G>T (p.Gly517Val)

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.1550G>T (p.Gly517Val)
Other names:
p.G517V:GGG>GTG
HGVS:
  • NC_000015.10:g.89326947C>A
  • NG_008218.2:g.12849G>T
  • NM_001126131.1:c.1550G>T
  • NM_002693.2:c.1550G>T
  • NP_001119603.1:p.Gly517Val
  • NP_002684.1:p.Gly517Val
  • LRG_765t1:c.1550G>T
  • LRG_765:g.12849G>T
  • LRG_765p1:p.Gly517Val
  • NC_000015.9:g.89870178C>A
  • P54098:p.Gly517Val
Protein change:
G517V
Links:
UniProtKB: P54098#VAR_058879; dbSNP: rs61752783
NCBI 1000 Genomes Browser:
rs61752783
Molecular consequence:
  • NM_002693.2:c.1550G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Camptocormia
Identifiers:
MedGen: C0264162; Human Phenotype Ontology: HP:0100595

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000240098Department of Neurology, University Hospital of Strasbourgno assertion criteria providedPathogenic
(Jan 1, 2012)
unknownliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasianssunknownyes21not provided2yesliterature only

Citations

PubMed

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Horvath R, Hudson G, Ferrari G, F├╝tterer N, Ahola S, Lamantea E, Prokisch H, Lochm├╝ller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, et al.

Brain. 2006 Jul;129(Pt 7):1674-84. Epub 2006 Apr 18.

PubMed [citation]
PMID:
16621917

Details of each submission

From Department of Neurology, University Hospital of Strasbourg, SCV000240098.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasianss2not providedyesliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes2Musclenot provided2not provided1not provided

Last Updated: Mar 30, 2019

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