U.S. flag

An official website of the United States government

NM_001165963.4(SCN1A):c.1066A>G (p.Arg356Gly) 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:
RCV000059371.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.1066A>G (p.Arg356Gly)]

NM_001165963.4(SCN1A):c.1066A>G (p.Arg356Gly)

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.1066A>G (p.Arg356Gly)
HGVS:
  • NC_000002.12:g.166047731T>C
  • NG_011906.1:g.30909A>G
  • NM_001165963.4:c.1066A>GMANE SELECT
  • NM_001165964.3:c.1066A>G
  • NM_001202435.3:c.1066A>G
  • NM_001353948.2:c.1066A>G
  • NM_001353949.2:c.1066A>G
  • NM_001353950.2:c.1066A>G
  • NM_001353951.2:c.1066A>G
  • NM_001353952.2:c.1066A>G
  • NM_001353954.2:c.1066A>G
  • NM_001353955.2:c.1066A>G
  • NM_001353957.2:c.1066A>G
  • NM_001353958.2:c.1066A>G
  • NM_001353960.2:c.1066A>G
  • NM_001353961.2:c.-1360A>G
  • NM_006920.6:c.1066A>G
  • NP_001159435.1:p.Arg356Gly
  • NP_001159436.1:p.Arg356Gly
  • NP_001189364.1:p.Arg356Gly
  • NP_001340877.1:p.Arg356Gly
  • NP_001340878.1:p.Arg356Gly
  • NP_001340879.1:p.Arg356Gly
  • NP_001340880.1:p.Arg356Gly
  • NP_001340881.1:p.Arg356Gly
  • NP_001340883.1:p.Arg356Gly
  • NP_001340884.1:p.Arg356Gly
  • NP_001340886.1:p.Arg356Gly
  • NP_001340887.1:p.Arg356Gly
  • NP_001340889.1:p.Arg356Gly
  • NP_008851.3:p.Arg356Gly
  • LRG_8t1:c.1066A>G
  • LRG_8:g.30909A>G
  • NC_000002.11:g.166904241T>C
  • NM_001165963.1:c.1066A>G
  • NM_006920.4:c.1066A>G
  • NR_148667.2:n.1452A>G
  • P35498:p.Arg356Gly
Protein change:
R356G
Links:
UniProtKB: P35498#VAR_064299; UniProtKB/Swiss-Prot: VAR_064299; dbSNP: rs121917920
NCBI 1000 Genomes Browser:
rs121917920
Molecular consequence:
  • NM_001353961.2:c.-1360A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001165963.4:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.1452A>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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000090895UniProtKB/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

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, SCV000090895.1

#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