U.S. flag

An official website of the United States government

NM_172107.4(KCNQ2):c.749T>G (p.Val250Gly) 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:
RCV000678093.3

Allele description [Variation Report for NM_172107.4(KCNQ2):c.749T>G (p.Val250Gly)]

NM_172107.4(KCNQ2):c.749T>G (p.Val250Gly)

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.749T>G (p.Val250Gly)
HGVS:
  • NC_000020.11:g.63442473A>C
  • NG_009004.2:g.35168T>G
  • NM_004518.6:c.749T>G
  • NM_172106.3:c.749T>G
  • NM_172107.4:c.749T>GMANE SELECT
  • NM_172108.5:c.749T>G
  • NM_172109.3:c.749T>G
  • NP_004509.2:p.Val250Gly
  • NP_742104.1:p.Val250Gly
  • NP_742105.1:p.Val250Gly
  • NP_742106.1:p.Val250Gly
  • NP_742107.1:p.Val250Gly
  • NC_000020.10:g.62073826A>C
  • NM_172107.2:c.749T>G
Protein change:
V250G
Links:
dbSNP: rs118192206
NCBI 1000 Genomes Browser:
rs118192206
Molecular consequence:
  • NM_004518.6:c.749T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.749T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.749T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.749T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172109.3:c.749T>G - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000041656GeneReviews
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

Ion channel variation causes epilepsies.

Moulard B, Picard F, le Hellard S, Agulhon C, Weiland S, Favre I, Bertrand S, Malafosse A, Bertrand D.

Brain Res Brain Res Rev. 2001 Oct;36(2-3):275-84. Review.

PubMed [citation]
PMID:
11690625

Details of each submission

From GeneReviews, SCV000041656.3

#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: Sep 29, 2024