NM_002693.2(POLG):c.128A>G (p.Gln43Arg) AND Seizures

Clinical significance:Benign (Last evaluated: Jul 11, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000716279.1

Allele description [Variation Report for NM_002693.2(POLG):c.128A>G (p.Gln43Arg)]

NM_002693.2(POLG):c.128A>G (p.Gln43Arg)

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.128A>G (p.Gln43Arg)
Other names:
p.Q43R:CAG>CGG
HGVS:
  • NC_000015.10:g.89333627T>C
  • NG_008218.2:g.6169A>G
  • NM_002693.2:c.128A>G
  • NP_002684.1:p.Gln43Arg
  • LRG_765t1:c.128A>G
  • LRG_765:g.6169A>G
  • LRG_765p1:p.Gln43Arg
  • NC_000015.9:g.89876858T>C
Protein change:
Q43R
Links:
dbSNP: rs28567406
NCBI 1000 Genomes Browser:
rs28567406
Molecular consequence:
  • NM_002693.2:c.128A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Seizures
Synonyms:
Seizure; Epilepsy
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000847119Ambry Geneticscriteria provided, single submitter
Benign
(Jul 11, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000847119.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2019

Support Center