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NM_172107.4(KCNQ2):c.1030T>C (p.Trp344Arg) AND Seizures, benign familial neonatal, 1

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000678157.4

Allele description [Variation Report for NM_172107.4(KCNQ2):c.1030T>C (p.Trp344Arg)]

NM_172107.4(KCNQ2):c.1030T>C (p.Trp344Arg)

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_172107.4(KCNQ2):c.1030T>C (p.Trp344Arg)
HGVS:
  • NC_000020.11:g.63433897A>G
  • NG_009004.2:g.43744T>C
  • NM_004518.6:c.1030T>C
  • NM_172106.3:c.1030T>C
  • NM_172107.4:c.1030T>CMANE SELECT
  • NM_172108.5:c.1030T>C
  • NM_172109.3:c.1030T>C
  • NP_004509.2:p.Trp344Arg
  • NP_742104.1:p.Trp344Arg
  • NP_742105.1:p.Trp344Arg
  • NP_742106.1:p.Trp344Arg
  • NP_742107.1:p.Trp344Arg
  • NC_000020.10:g.62065250A>G
  • NM_172107.2:c.1030T>C
Protein change:
W344R
Links:
dbSNP: rs1057516105
NCBI 1000 Genomes Browser:
rs1057516105
Molecular consequence:
  • NM_004518.6:c.1030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.1030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.1030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.1030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172109.3:c.1030T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Seizures, benign familial neonatal, 1
Synonyms:
Benign Neonatal Epilepsy 1; KCNQ2-Related Benign Familial Neonatal Epilepsy
Identifiers:
MONDO: MONDO:0007365; MedGen: C3149074; Orphanet: 1949; OMIM: 121200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000484602GeneReviews
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

Soldovieri MV, Boutry-Kryza N, Milh M, Doummar D, Heron B, Bourel E, Ambrosino P, Miceli F, De Maria M, Dorison N, Auvin S, Echenne B, Oertel J, Riquet A, Lambert L, Gerard M, Roubergue A, Calender A, Mignot C, Taglialatela M, Lesca G.

Hum Mutat. 2014 Mar;35(3):356-67. doi: 10.1002/humu.22500. Epub 2014 Jan 13.

PubMed [citation]
PMID:
24375629

Details of each submission

From GeneReviews, SCV000484602.2

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

Description

BFNE (benign familial neonatal epilepsy)

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

Last Updated: Jun 23, 2024