• not current

NM_172107.3(KCNQ2):c.643G>A (p.Gly215Arg) AND Early infantile epileptic encephalopathy 7

Clinical significance:Pathogenic (Last evaluated: Mar 31, 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:
RCV000408667.1

Allele description

NM_172107.3(KCNQ2):c.643G>A (p.Gly215Arg)

Gene:
KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
NM_172107.3(KCNQ2):c.643G>A (p.Gly215Arg)
HGVS:
  • NC_000020.11:g.63444706C>T
  • NG_009004.2:g.32935G>A
  • NM_172107.3:c.643G>A
  • NP_742105.1:p.Gly215Arg
  • NC_000020.10:g.62076059C>T
  • NM_172107.2:c.643G>A
Protein change:
G215R
Links:
dbSNP: rs1057516088
NCBI 1000 Genomes Browser:
rs1057516088
Molecular consequence:
  • NM_172107.3:c.643G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Early infantile epileptic encephalopathy 7 (EIEE7)
Synonyms:
KCNQ2-Related Neonatal Epileptic Encephalopathy
Identifiers:
MedGen: C3150986; Orphanet: 439218; OMIM: 613720
Age of onset:
Infancy
Prevalence:
<1 / 1 000 000 439218

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000484571GeneReviewsno assertion criteria providedPathogenic
(Mar 31, 2016)
germlineliterature only

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?

Dalen Meurs-van der Schoor C, van Weissenbruch M, van Kempen M, Bugiani M, Aronica E, Ronner H, Vermeulen RJ.

Front Pediatr. 2014;2:136. doi: 10.3389/fped.2014.00136.

PubMed [citation]
PMID:
25566516
PMCID:
PMC4271583

Details of each submission

From GeneReviews, SCV000484571.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Uncertain severity

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 22, 2017

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