Evidence Detail for SCN2A

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Basic Information Top
Gene Symbol:SCN2A ( BFIC3,HBA,HBSCI,HBSCII,NAC2,Na(v)1.2,Nav1.2,SCN2A1,SCN2A2 )
Gene Full Name: sodium channel, voltage-gated, type II, alpha subunit
Band: 2q24.3
Quick LinksEntrez ID:6326; OMIM: 182390; Uniprot ID:SCN2A_HUMAN; ENSEMBL ID: ENSG00000136531
Sequences Top
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2) 20 (3)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
(% Women)
ADI-R ADOS Diagnosis Age
Maestrini, 2009_1 Discovery 1 (detail) 126 126
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
No Evidence.
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Weiss, 2003_1 Human -AD genetics: mutation screen
  • Subjects: 117
  • Normal Controls: -
  • Methods: Radioimmunoassays for beta-endorphin using C-terminally and N-terminally directed antisera
  • Evidence Details: R1902C was only found in one autism family but not control; a autism family specific branchpoint mutation was found in intron 6
Sanders, 2012_1 human bloodASD Mutation screen
  • Subjects: 238 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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