NM_002693.2(POLG):c.3131T>C (p.Val1044Ala) AND EEG abnormality

Clinical significance:Uncertain significance (Last evaluated: Dec 22, 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:
RCV000678829.1

Allele description [Variation Report for NM_002693.2(POLG):c.3131T>C (p.Val1044Ala)]

NM_002693.2(POLG):c.3131T>C (p.Val1044Ala)

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.3131T>C (p.Val1044Ala)
HGVS:
  • NC_000015.10:g.89319073A>G
  • NG_008218.2:g.20723T>C
  • NM_001126131.1:c.3131T>C
  • NM_002693.2:c.3131T>C
  • NP_001119603.1:p.Val1044Ala
  • NP_002684.1:p.Val1044Ala
  • LRG_765t1:c.3131T>C
  • LRG_765:g.20723T>C
  • LRG_765p1:p.Val1044Ala
  • NC_000015.9:g.89862304A>G
  • p.V1044A
Protein change:
V1044A
Links:
dbSNP: rs150233690
NCBI 1000 Genomes Browser:
rs150233690
Molecular consequence:
  • NM_002693.2:c.3131T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
EEG abnormality
Synonyms:
EEG abnormalities; Abnormal EEG; Electroencephalogram abnormal; See all synonyms [MedGen]
Identifiers:
MedGen: C0151611; Human Phenotype Ontology: HP:0002353

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000805015Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospitalno assertion criteria providedUncertain significance
(Dec 22, 2016)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital, SCV000805015.1

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

Last Updated: Mar 30, 2019

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