U.S. flag

An official website of the United States government

NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly) 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:
RCV000059542.2

Allele description [Variation Report for NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly)]

NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly)

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.5434T>G (p.Trp1812Gly)
HGVS:
  • NC_000002.12:g.165991841A>C
  • NG_011906.1:g.86799T>G
  • NM_001165963.4:c.5434T>GMANE SELECT
  • NM_001165964.3:c.5350T>G
  • NM_001202435.3:c.5434T>G
  • NM_001353948.2:c.5434T>G
  • NM_001353949.2:c.5401T>G
  • NM_001353950.2:c.5401T>G
  • NM_001353951.2:c.5401T>G
  • NM_001353952.2:c.5401T>G
  • NM_001353954.2:c.5398T>G
  • NM_001353955.2:c.5398T>G
  • NM_001353957.2:c.5350T>G
  • NM_001353958.2:c.5350T>G
  • NM_001353960.2:c.5347T>G
  • NM_001353961.2:c.2992T>G
  • NM_006920.6:c.5401T>G
  • NP_001159435.1:p.Trp1812Gly
  • NP_001159436.1:p.Trp1784Gly
  • NP_001189364.1:p.Trp1812Gly
  • NP_001340877.1:p.Trp1812Gly
  • NP_001340878.1:p.Trp1801Gly
  • NP_001340879.1:p.Trp1801Gly
  • NP_001340880.1:p.Trp1801Gly
  • NP_001340881.1:p.Trp1801Gly
  • NP_001340883.1:p.Trp1800Gly
  • NP_001340884.1:p.Trp1800Gly
  • NP_001340886.1:p.Trp1784Gly
  • NP_001340887.1:p.Trp1784Gly
  • NP_001340889.1:p.Trp1783Gly
  • NP_001340890.1:p.Trp998Gly
  • NP_008851.3:p.Trp1801Gly
  • LRG_8t1:c.5401T>G
  • LRG_8:g.86799T>G
  • NC_000002.11:g.166848351A>C
  • NM_001165963.1:c.5434T>G
  • NM_006920.4:c.5401T>G
  • NR_148667.2:n.5851T>G
Protein change:
W1783G
Links:
UniProtKB/Swiss-Prot: VAR_029724; dbSNP: rs121918751
NCBI 1000 Genomes Browser:
rs121918751
Molecular consequence:
  • NM_001165963.4:c.5434T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.5350T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.5434T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.5434T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.5401T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.5401T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.5401T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.5401T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.5398T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.5398T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.5350T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.5350T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.5347T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353961.2:c.2992T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.5401T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.5851T>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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000091074UniProtKB/Swiss-Protno assertion providednot providedgermlinenot provided

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

Summary from all submissions

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

Citations

PubMed

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watanabe M, Hara K, Morikawa T, Yagi K, Yamakawa K, Inoue Y.

Brain. 2003 Mar;126(Pt 3):531-46.

PubMed [citation]
PMID:
12566275

Details of each submission

From UniProtKB/Swiss-Prot, SCV000091074.1

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

Last Updated: Jun 24, 2022

Support Center