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NM_000744.7(CHRNA4):c.1007G>A (p.Arg336His) AND Autosomal dominant nocturnal frontal lobe epilepsy 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:
RCV000033926.5

Allele description [Variation Report for NM_000744.7(CHRNA4):c.1007G>A (p.Arg336His)]

NM_000744.7(CHRNA4):c.1007G>A (p.Arg336His)

Gene:
CHRNA4:cholinergic receptor nicotinic alpha 4 subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
NM_000744.7(CHRNA4):c.1007G>A (p.Arg336His)
HGVS:
  • NC_000020.11:g.63350404C>T
  • NG_011931.1:g.15940G>A
  • NM_000744.7:c.1007G>AMANE SELECT
  • NM_001256573.2:c.479G>A
  • NP_000735.1:p.Arg336His
  • NP_000735.1:p.Arg336His
  • NP_001243502.1:p.Arg160His
  • NC_000020.10:g.61981756C>T
  • NM_000744.5:c.1007G>A
  • NM_000744.6:c.1007G>A
  • NR_046317.2:n.1216G>A
Protein change:
R160H
Links:
dbSNP: rs281865068
NCBI 1000 Genomes Browser:
rs281865068
Molecular consequence:
  • NM_000744.7:c.1007G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256573.2:c.479G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046317.2:n.1216G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Autosomal dominant nocturnal frontal lobe epilepsy 1
Synonyms:
Epilepsy, nocturnal frontal lobe, type 1
Identifiers:
MONDO: MONDO:0010899; MedGen: C1838049; Orphanet: 98784; OMIM: 600513

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000057843GeneReviews
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 providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene.

Combi R, Dalprà L, Ferini-Strambi L, Tenchini ML.

Ann Neurol. 2005 Dec;58(6):899-904.

PubMed [citation]
PMID:
16222669

Details of each submission

From GeneReviews, SCV000057843.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024