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NM_001165963.4(SCN1A):c.4265A>G (p.Tyr1422Cys) 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:
RCV000059414.2

Allele description [Variation Report for NM_001165963.4(SCN1A):c.4265A>G (p.Tyr1422Cys)]

NM_001165963.4(SCN1A):c.4265A>G (p.Tyr1422Cys)

Genes:
SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
LOC102724058:uncharacterized LOC102724058 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001165963.4(SCN1A):c.4265A>G (p.Tyr1422Cys)
HGVS:
  • NC_000002.12:g.166002491T>C
  • NG_011906.1:g.76149A>G
  • NM_001165963.4:c.4265A>GMANE SELECT
  • NM_001165963.4:c.4265A>G
  • NM_001165964.3:c.4181A>G
  • NM_001202435.3:c.4265A>G
  • NM_001353948.2:c.4265A>G
  • NM_001353949.2:c.4232A>G
  • NM_001353950.2:c.4232A>G
  • NM_001353951.2:c.4232A>G
  • NM_001353952.2:c.4232A>G
  • NM_001353954.2:c.4229A>G
  • NM_001353955.2:c.4229A>G
  • NM_001353957.2:c.4181A>G
  • NM_001353958.2:c.4181A>G
  • NM_001353960.2:c.4178A>G
  • NM_001353961.2:c.1823A>G
  • NM_006920.6:c.4232A>G
  • NP_001159435.1:p.Tyr1422Cys
  • NP_001159436.1:p.Tyr1394Cys
  • NP_001189364.1:p.Tyr1422Cys
  • NP_001340877.1:p.Tyr1422Cys
  • NP_001340878.1:p.Tyr1411Cys
  • NP_001340879.1:p.Tyr1411Cys
  • NP_001340880.1:p.Tyr1411Cys
  • NP_001340881.1:p.Tyr1411Cys
  • NP_001340883.1:p.Tyr1410Cys
  • NP_001340884.1:p.Tyr1410Cys
  • NP_001340886.1:p.Tyr1394Cys
  • NP_001340887.1:p.Tyr1394Cys
  • NP_001340889.1:p.Tyr1393Cys
  • NP_001340890.1:p.Tyr608Cys
  • NP_008851.3:p.Tyr1411Cys
  • LRG_8t1:c.4232A>G
  • LRG_8:g.76149A>G
  • NC_000002.11:g.166859001T>C
  • NM_001165963.1:c.4265A>G
  • NM_006920.4:c.4232A>G
  • NR_148667.2:n.4682A>G
Protein change:
Y1393C
Links:
UniProtKB/Swiss-Prot: VAR_064313; dbSNP: rs121917913
NCBI 1000 Genomes Browser:
rs121917913
Molecular consequence:
  • NM_001165963.4:c.4265A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.4265A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.4265A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.4232A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.4232A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.4232A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.4232A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.4229A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.4229A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.4181A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353961.2:c.1823A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.4232A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.4682A>G - 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
SCV000090938UniProtKB/Swiss-Prot
no classification provided
not providedunknownnot provided

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

Help

Summary from all submissions

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

Citations

PubMed

Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.

Mancardi MM, Striano P, Gennaro E, Madia F, Paravidino R, Scapolan S, Dalla Bernardina B, Bertini E, Bianchi A, Capovilla G, Darra F, Elia M, Freri E, Gobbi G, Granata T, Guerrini R, Pantaleoni C, Parmeggiani A, Romeo A, Santucci M, Vecchi M, Veggiotti P, et al.

Epilepsia. 2006 Oct;47(10):1629-35. Erratum in: Epilepsia. 2007 Feb;48(2):409.

PubMed [citation]
PMID:
17054684

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090938.1

#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: Feb 20, 2024