NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys) 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:
RCV000059530.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys)]

NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys)

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.5081A>G (p.Tyr1694Cys)
HGVS:
  • NC_000002.12:g.165992194T>C
  • NG_011906.1:g.86446A>G
  • NM_001165963.4:c.5081A>GMANE SELECT
  • NM_001165963.4:c.5081A>G
  • NM_001165964.3:c.4997A>G
  • NM_001202435.3:c.5081A>G
  • NM_001353948.2:c.5081A>G
  • NM_001353949.2:c.5048A>G
  • NM_001353950.2:c.5048A>G
  • NM_001353951.2:c.5048A>G
  • NM_001353952.2:c.5048A>G
  • NM_001353954.2:c.5045A>G
  • NM_001353955.2:c.5045A>G
  • NM_001353957.2:c.4997A>G
  • NM_001353958.2:c.4997A>G
  • NM_001353960.2:c.4994A>G
  • NM_001353961.2:c.2639A>G
  • NM_006920.6:c.5048A>G
  • NP_001159435.1:p.Tyr1694Cys
  • NP_001159436.1:p.Tyr1666Cys
  • NP_001189364.1:p.Tyr1694Cys
  • NP_001340877.1:p.Tyr1694Cys
  • NP_001340878.1:p.Tyr1683Cys
  • NP_001340879.1:p.Tyr1683Cys
  • NP_001340880.1:p.Tyr1683Cys
  • NP_001340881.1:p.Tyr1683Cys
  • NP_001340883.1:p.Tyr1682Cys
  • NP_001340884.1:p.Tyr1682Cys
  • NP_001340886.1:p.Tyr1666Cys
  • NP_001340887.1:p.Tyr1666Cys
  • NP_001340889.1:p.Tyr1665Cys
  • NP_001340890.1:p.Tyr880Cys
  • NP_008851.3:p.Tyr1683Cys
  • LRG_8t1:c.5048A>G
  • LRG_8:g.86446A>G
  • NC_000002.11:g.166848704T>C
  • NM_006920.4:c.5048A>G
  • NR_148667.2:n.5498A>G
Protein change:
Y1665C
Links:
UniProtKB/Swiss-Prot: VAR_029713; dbSNP: rs121918777
NCBI 1000 Genomes Browser:
rs121918777
Molecular consequence:
  • NM_001165963.4:c.5081A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.4997A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.5081A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.5081A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.5048A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.5048A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.5048A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.5048A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.5045A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.5045A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.4997A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.4997A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.4994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353961.2:c.2639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.5048A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.5498A>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)
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
SCV000091061UniProtKB/Swiss-Protno assertion providednot providednot providednot provided

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

Description

Variants reported as p.Tyr1684Cys in PubMed 14738421

SCV000091061

Summary from all submissions

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

Citations

PubMed

Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).

Fukuma G, Oguni H, Shirasaka Y, Watanabe K, Miyajima T, Yasumoto S, Ohfu M, Inoue T, Watanachai A, Kira R, Matsuo M, Muranaka H, Sofue F, Zhang B, Kaneko S, Mitsudome A, Hirose S.

Epilepsia. 2004 Feb;45(2):140-8.

PubMed [citation]
PMID:
14738421

Details of each submission

From UniProtKB/Swiss-Prot, SCV000091061.1

#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: Oct 30, 2021

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