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NM_001165963.4(SCN1A):c.235G>C (p.Asp79His) AND Severe myoclonic epilepsy in infancy

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:
RCV000059389.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.235G>C (p.Asp79His)]

NM_001165963.4(SCN1A):c.235G>C (p.Asp79His)

Gene:
SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001165963.4(SCN1A):c.235G>C (p.Asp79His)
HGVS:
  • NC_000002.12:g.166073387C>G
  • NG_011906.1:g.5253G>C
  • NM_001165963.4:c.235G>CMANE SELECT
  • NM_001165964.3:c.235G>C
  • NM_001202435.3:c.235G>C
  • NM_001353948.2:c.235G>C
  • NM_001353949.2:c.235G>C
  • NM_001353950.2:c.235G>C
  • NM_001353951.2:c.235G>C
  • NM_001353952.2:c.235G>C
  • NM_001353954.2:c.235G>C
  • NM_001353955.2:c.235G>C
  • NM_001353957.2:c.235G>C
  • NM_001353958.2:c.235G>C
  • NM_001353960.2:c.235G>C
  • NM_001353961.2:c.-2191G>C
  • NM_006920.6:c.235G>C
  • NP_001159435.1:p.Asp79His
  • NP_001159436.1:p.Asp79His
  • NP_001189364.1:p.Asp79His
  • NP_001340877.1:p.Asp79His
  • NP_001340878.1:p.Asp79His
  • NP_001340879.1:p.Asp79His
  • NP_001340880.1:p.Asp79His
  • NP_001340881.1:p.Asp79His
  • NP_001340883.1:p.Asp79His
  • NP_001340884.1:p.Asp79His
  • NP_001340886.1:p.Asp79His
  • NP_001340887.1:p.Asp79His
  • NP_001340889.1:p.Asp79His
  • NP_008851.3:p.Asp79His
  • LRG_8t1:c.235G>C
  • LRG_8:g.5253G>C
  • NC_000002.11:g.166929897C>G
  • NM_006920.4:c.235G>C
  • NR_148667.2:n.621G>C
  • P35498:p.Asp79His
Protein change:
D79H
Links:
UniProtKB: P35498#VAR_064346; UniProtKB/Swiss-Prot: VAR_064346; dbSNP: rs121917982
NCBI 1000 Genomes Browser:
rs121917982
Molecular consequence:
  • NM_001353961.2:c.-2191G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001165963.4:c.235G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.235G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.235G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.235G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.235G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.235G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.235G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.235G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.235G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.235G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.235G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.235G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.235G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.235G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.621G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Severe myoclonic epilepsy in infancy (DRVT)
Synonyms:
Epilepsy, Myoclonic, Infantile, Severe; Dravet syndrome; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0100135; MedGen: C0751122; Orphanet: 33069; OMIM: 607208

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000090913UniProtKB/Swiss-Prot
no classification provided
not providedunknownnot provided

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

Description

Found in a patient with a SMEI borderline phenotype

SCV000090913

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

The spectrum of SCN1A-related infantile epileptic encephalopathies.

Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, Sadleir LG, Andermann E, Gill D, Farrell K, Connolly M, Stanley T, Harbord M, Andermann F, Wang J, Batish SD, Jones JG, Seltzer WK, Gardner A; Infantile Epileptic Encephalopathy Referral Consortium., Sutherland G, Berkovic SF, et al.

Brain. 2007 Mar;130(Pt 3):843-52.

PubMed [citation]
PMID:
17347258

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090913.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023