NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) AND West syndrome

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:
RCV000059551.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly)]

NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly)

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.5870A>G (p.Glu1957Gly)
Other names:
p.E1957G:GAA>GGA
HGVS:
  • NC_000002.12:g.165991405T>C
  • NG_011906.1:g.87235A>G
  • NM_001165963.4:c.5870A>GMANE SELECT
  • NM_001165963.4:c.5870A>G
  • NM_001165964.3:c.5786A>G
  • NM_001202435.3:c.5870A>G
  • NM_001353948.2:c.5870A>G
  • NM_001353949.2:c.5837A>G
  • NM_001353950.2:c.5837A>G
  • NM_001353951.2:c.5837A>G
  • NM_001353952.2:c.5837A>G
  • NM_001353954.2:c.5834A>G
  • NM_001353955.2:c.5834A>G
  • NM_001353957.2:c.5786A>G
  • NM_001353958.2:c.5786A>G
  • NM_001353960.2:c.5783A>G
  • NM_001353961.2:c.3428A>G
  • NM_006920.6:c.5837A>G
  • NP_001159435.1:p.Glu1957Gly
  • NP_001159436.1:p.Glu1929Gly
  • NP_001189364.1:p.Glu1957Gly
  • NP_001340877.1:p.Glu1957Gly
  • NP_001340878.1:p.Glu1946Gly
  • NP_001340879.1:p.Glu1946Gly
  • NP_001340880.1:p.Glu1946Gly
  • NP_001340881.1:p.Glu1946Gly
  • NP_001340883.1:p.Glu1945Gly
  • NP_001340884.1:p.Glu1945Gly
  • NP_001340886.1:p.Glu1929Gly
  • NP_001340887.1:p.Glu1929Gly
  • NP_001340889.1:p.Glu1928Gly
  • NP_001340890.1:p.Glu1143Gly
  • NP_008851.3:p.Glu1946Gly
  • LRG_8t1:c.5837A>G
  • LRG_8:g.87235A>G
  • NC_000002.11:g.166847915T>C
  • NM_001165963.1:c.5870A>G
  • NM_006920.4:c.5837A>G
  • NR_148667.2:n.6287A>G
Protein change:
E1143G
Links:
UniProtKB/Swiss-Prot: VAR_029731; dbSNP: rs121918802
NCBI 1000 Genomes Browser:
rs121918802
Molecular consequence:
  • NM_001165963.4:c.5870A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.5786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.5870A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.5870A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.5837A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.5837A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.5837A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.5837A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.5834A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.5834A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.5786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.5786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.5783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353961.2:c.3428A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.5837A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.6287A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
West syndrome
Synonyms:
Spasms, Infantile; Infantile spasm
Identifiers:
MONDO: MONDO:0018097; MedGen: C0037769

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
SCV000091083UniProtKB/Swiss-Protno assertion providednot providednot providednot provided

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

Summary from all submissions

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

Citations

PubMed

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

Wallace RH, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodriguez-Casero V, Sadleir L, Morgan J, Harkin LA, Dibbens LM, Yamamoto T, Andermann E, Mulley JC, Berkovic SF, Scheffer IE.

Neurology. 2003 Sep 23;61(6):765-9.

PubMed [citation]
PMID:
14504318

Details of each submission

From UniProtKB/Swiss-Prot, SCV000091083.1

#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 7, 2021

Support Center