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NM_001165963.4(SCN1A):c.3692G>C (p.Ser1231Thr) 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:
RCV000059495.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.3692G>C (p.Ser1231Thr)]

NM_001165963.4(SCN1A):c.3692G>C (p.Ser1231Thr)

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.3692G>C (p.Ser1231Thr)
HGVS:
  • NC_000002.12:g.166013757C>G
  • NG_011906.1:g.64883G>C
  • NM_001165963.4:c.3692G>CMANE SELECT
  • NM_001165964.3:c.3608G>C
  • NM_001202435.3:c.3692G>C
  • NM_001353948.2:c.3692G>C
  • NM_001353949.2:c.3659G>C
  • NM_001353950.2:c.3659G>C
  • NM_001353951.2:c.3659G>C
  • NM_001353952.2:c.3659G>C
  • NM_001353954.2:c.3656G>C
  • NM_001353955.2:c.3656G>C
  • NM_001353957.2:c.3608G>C
  • NM_001353958.2:c.3608G>C
  • NM_001353960.2:c.3605G>C
  • NM_001353961.2:c.1250G>C
  • NM_006920.6:c.3659G>C
  • NP_001159435.1:p.Ser1231Thr
  • NP_001159436.1:p.Ser1203Thr
  • NP_001189364.1:p.Ser1231Thr
  • NP_001340877.1:p.Ser1231Thr
  • NP_001340878.1:p.Ser1220Thr
  • NP_001340879.1:p.Ser1220Thr
  • NP_001340880.1:p.Ser1220Thr
  • NP_001340881.1:p.Ser1220Thr
  • NP_001340883.1:p.Ser1219Thr
  • NP_001340884.1:p.Ser1219Thr
  • NP_001340886.1:p.Ser1203Thr
  • NP_001340887.1:p.Ser1203Thr
  • NP_001340889.1:p.Ser1202Thr
  • NP_001340890.1:p.Ser417Thr
  • NP_008851.3:p.Ser1220Thr
  • LRG_8t1:c.3659G>C
  • LRG_8:g.64883G>C
  • NC_000002.11:g.166870267C>G
  • NM_001165963.1:c.3692G>C
  • NM_006920.4:c.3659G>C
  • NR_148667.2:n.4045G>C
Protein change:
S1202T
Links:
UniProtKB/Swiss-Prot: VAR_064310; dbSNP: rs121918800
NCBI 1000 Genomes Browser:
rs121918800
Molecular consequence:
  • NM_001165963.4:c.3692G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.3608G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.3692G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.3692G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.3659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.3659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.3659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.3659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.3656G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.3656G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.3608G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.3608G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.3605G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353961.2:c.1250G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.3659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.4045G>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
SCV000091021UniProtKB/Swiss-Prot
no classification provided
not providednot providednot provided

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

Help

Summary from all submissions

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

Citations

PubMed

Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.

Kearney JA, Wiste AK, Stephani U, Trudeau MM, Siegel A, RamachandranNair R, Elterman RD, Muhle H, Reinsdorf J, Shields WD, Meisler MH, Escayg A.

Pediatr Neurol. 2006 Feb;34(2):116-20.

PubMed [citation]
PMID:
16458823

Details of each submission

From UniProtKB/Swiss-Prot, SCV000091021.1

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

Last Updated: Aug 5, 2023