AutismKB 2.0

Variant Details 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; HGNC ID: 10588
Relate to Another Database: SFARIGene; denovo-db
Variant Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
Genetic Category CNVs/SVs de novo Mutations Mosaics SNVs NGS Other Mutations Low-Scale Gene Mutations Linkage Regions Total
Number 0 41 1 15 1 0 58
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
No related data!
NGS de novo Mutations Top
iFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
Chr Pos Ref Alt Coding AA Validated Method iFish Prediction iFish Probability Reference
2 166210819 G T c.3037G>T p.Gly1013Unk Sanger sequencing Sanders SJ, 2012
2 166201379 C A c.2877C>A p.Cys959Unk Sanger sequencing Sanders SJ, 2012
2 166164448 G A c.476?+?1G?>?A Sanger sequencing Tavassoli T, 2014
2 166152578 A G Sanger sequencing deleterious0.9878 De Rubeis S, 2014
2 166170231 G A Sanger sequencing deleterious0.9976 De Rubeis S, 2014
2 166170231 G A Sanger sequencing deleterious0.9976 De Rubeis S, 2014
2 166183403 T TA Sanger sequencing De Rubeis S, 2014
2 166201312 G A Sanger sequencing deleterious0.9987 De Rubeis S, 2014
2 166245137 A T Sanger sequencing De Rubeis S, 2014
2 166152367 G A PCR or Sanger sequencing deleterious0.6774 Iossifov I, 2014
2 166245191 C - Sanger sequencing Yuen RK, 2016
2 166170550 GCTGAACAGAAGGAAGCTGAATTTCAGCAGAT - Sanger sequencing Yuen RK, 2016
2 166152561 G GC c.232dup p.Leu78Profs*11 Sanger sequencing Wang T, 2016
2 166179814 GAA G c.1821_1822del p.Asp609Leufs*37 Sanger sequencing Wang T, 2016
2 166243497 ATT A c.4796_4797del p.Phe1599Cysfs*14 Sanger sequencing Wang T, 2016
2 166246026 CAA C c.5711_5712del p.Gln1904Argfs*22 Sanger sequencing Wang T, 2016
2 166229841 G C/G c.3956G>C p.Arg1319Pro Sanger sequencing deleterious0.9999 Wang T, 2016
2 166229733 A A/C c.3850-2A>C Sanger sequencing Wang T, 2016
2 166179813 C C/T c.1819C>T p.Arg607* Sanger sequencing Wang T, 2016
2 166201068 C C/T c.2566C>T p.Arg856* Sanger sequencing Wang T, 2016
2 166167003 A A/G Sanger sequencing Wang T, 2016
2 166170189 C C/T Sanger sequencing deleterious0.9873 Wang T, 2016
2 166172026 G G/T Sanger sequencing Wang T, 2016
2 166245634 C C/T Sanger sequencing Wang T, 2016
2 166164448 A c.476+1G>A Stessman HA, 2017
2 166229813 T c.3929_3930delCTinsT p.Ala1310ValfsTer2 Stessman HA, 2017
2 166245189 TCC TC HiSeq X and Sanger C Yuen RK, 2017
2 166170548 GGCTGAACAGAAGGAAGCTGAATTTCAGCAGAT G HiSeq X and Sanger C Yuen RK, 2017
2 166245189 TC T HiSeq X and Sanger C Yuen RK, 2017
2 166179813 C T c.1819C>T p.Arg607Unk Sanger sequencing Li J, 2017
0 p.Arg937 Geisheker MR, 2017
0 p.Arg853 Geisheker MR, 2017
0 p.Arg379 Geisheker MR, 2017
2 166183403 T TA Fromer M, 2014
2 166172031 TG T Deciphering Developmental , 2015
2 166179687 TC T Deciphering Developmental , 2015
2 166165305 G A Deciphering Developmental , 2015
2 166166923 C T C788T A263V deleterious0.9996 Halvardson J, 2016
0 c.2379+1G>A p.Glu717Gly.fs*30 Horvath GA, 2016
2 166222808 1.7kbdel Y Yuen RK, 2015
2 166237202 G C c.G4409C p.G1470A deleterious0.9058 Tammimies K, 2015
NGS Mosaic Mutations Top
Chr Position Ref Alt Genotype Validated Method Reference
2 166211152 A T Parental Mosaic Transmitted Krupp DR, 2017
NGS Other Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
p.R583X Y Codina-Sol, 2015
2 166170611 A A/C Y Wang T, 2016
2 166223735 C C/T Y Wang T, 2016
2 166223772 G A/G Y Wang T, 2016
2 166245838 C C/T Y Wang T, 2016
2 166245867 C C/T Y Wang T, 2016
2 166246059 G A/G Y Wang T, 2016
2 166246144 C C/T Y Wang T, 2016
2 166179835 C C/T Y Wang T, 2016
2 166210825 G A/G Y Wang T, 2016
2 166221707 G A/G Y Wang T, 2016
2 166221743 T C/T Y Wang T, 2016
2 166243261 A A/C Y Wang T, 2016
2 166245706 T C/T Y Wang T, 2016
2 166246068 C C/T Y Wang T, 2016
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
2 166245217 G A p.G1634D Y deleterious0.9996 Leach EL, 2016
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
No related data!




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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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