NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) AND Epileptic encephalopathy

Clinical significance:Likely pathogenic (Last evaluated: Mar 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000782162.1

Allele description [Variation Report for NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg)]

NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg)

Gene:
KCNB1:potassium voltage-gated channel subfamily B member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.13
Genomic location:
Preferred name:
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg)
HGVS:
  • NC_000020.11:g.49374377C>T
  • NG_041781.2:g.113268G>A
  • NM_004975.4:c.1183G>AMANE SELECT
  • NP_004966.1:p.Gly395Arg
  • NC_000020.10:g.47990914C>T
  • NM_004975.2:c.1183G>A
  • NM_004975.3:c.1183G>A
Protein change:
G395R
Links:
dbSNP: rs959316981
NCBI 1000 Genomes Browser:
rs959316981
Molecular consequence:
  • NM_004975.4:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Epileptic encephalopathy
Identifiers:
MedGen: C0543888; Human Phenotype Ontology: HP:0200134

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000920626Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades,CHU Paris - Hôpital Necker-Enfants Maladescriteria provided, single submitter
Likely pathogenic
(Mar 1, 2019)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades,CHU Paris - Hôpital Necker-Enfants Malades, SCV000920626.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Aug 17, 2021

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