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NM_001165963.4(SCN1A):c.4762T>C (p.Cys1588Arg) AND Severe myoclonic epilepsy in infancy

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000059426.2

Allele description [Variation Report for NM_001165963.4(SCN1A):c.4762T>C (p.Cys1588Arg)]

NM_001165963.4(SCN1A):c.4762T>C (p.Cys1588Arg)

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.4762T>C (p.Cys1588Arg)
Other names:
p.C1588R:TGT>CGT
HGVS:
  • NC_000002.12:g.165994236A>G
  • NG_011906.1:g.84404T>C
  • NM_001165963.4:c.4762T>CMANE SELECT
  • NM_001165964.3:c.4678T>C
  • NM_001202435.3:c.4762T>C
  • NM_001353948.2:c.4762T>C
  • NM_001353949.2:c.4729T>C
  • NM_001353950.2:c.4729T>C
  • NM_001353951.2:c.4729T>C
  • NM_001353952.2:c.4729T>C
  • NM_001353954.2:c.4726T>C
  • NM_001353955.2:c.4726T>C
  • NM_001353957.2:c.4678T>C
  • NM_001353958.2:c.4678T>C
  • NM_001353960.2:c.4675T>C
  • NM_001353961.2:c.2320T>C
  • NM_006920.6:c.4729T>C
  • NP_001159435.1:p.Cys1588Arg
  • NP_001159436.1:p.Cys1560Arg
  • NP_001189364.1:p.Cys1588Arg
  • NP_001340877.1:p.Cys1588Arg
  • NP_001340878.1:p.Cys1577Arg
  • NP_001340879.1:p.Cys1577Arg
  • NP_001340880.1:p.Cys1577Arg
  • NP_001340881.1:p.Cys1577Arg
  • NP_001340883.1:p.Cys1576Arg
  • NP_001340884.1:p.Cys1576Arg
  • NP_001340886.1:p.Cys1560Arg
  • NP_001340887.1:p.Cys1560Arg
  • NP_001340889.1:p.Cys1559Arg
  • NP_001340890.1:p.Cys774Arg
  • NP_008851.3:p.Cys1577Arg
  • LRG_8t1:c.4729T>C
  • LRG_8:g.84404T>C
  • NC_000002.11:g.166850746A>G
  • NM_001165963.1:c.4762T>C
  • NM_006920.4:c.4729T>C
  • NR_148667.2:n.5179T>C
Protein change:
C1559R
Links:
UniProtKB/Swiss-Prot: VAR_064319; dbSNP: rs121917919
NCBI 1000 Genomes Browser:
rs121917919
Molecular consequence:
  • NM_001165963.4:c.4762T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.4678T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.4762T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.4762T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.4729T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.4729T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.4729T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.4729T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.4726T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.4726T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.4678T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.4678T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.4675T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353961.2:c.2320T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.4729T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.5179T>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)
Identifiers:
MONDO: MONDO:0100135; MedGen: C0751122; Orphanet: 33069; OMIM: 607208

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000090950UniProtKB/Swiss-Protno assertion providednot providedunknownnot provided

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

Summary from all submissions

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

Citations

PubMed

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

Marini C, Mei D, Temudo T, Ferrari AR, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R.

Epilepsia. 2007 Sep;48(9):1678-1685. doi: 10.1111/j.1528-1167.2007.01122.x. Epub 2007 Jun 11.

PubMed [citation]
PMID:
17561957

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090950.1

#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: Jun 24, 2022

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