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SCN1A mutations list 38/38
...   33    34    35    36    37    38  
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
1851 exon 15dup SCN1A exon 15 dup SCN1A Partial gene duplication SMENA Xu X.2014
1852exon 25dup 35 bp (c.4611_4646) dup SCN1A Partial gene duplication SMENA Xu X.2014
1853exon 2-16dup SCN1A exon 2-16dup SCN1A Partial gene duplicationSMEINANakayama T.2010
1854exon 2-21dup SCN1A exon 2-21dup SCN1A Partial gene duplicationSMEINADepienne C.2009
1855exon 3-10dup SCN1A exon 3-10dup SCN1A Partial gene duplicationSMEIDe novoSun H.2010
1856exon 8-16dup SCN1A exon 8-16dup SCN1A Partial gene duplicationSMEFamilial(Maternal,mosaic,FS), p=2/2Marini C.2009
1857exon 10-13 dup SCN1A exon 10-13 dup SCN1A Partial gene duplication SME NA Petrelli C.2012
1858exon 17-20 dup SCN1A exon 17-20 dup SCN1A Partial gene duplication SMEI De novo Verbeek NE.2013
1859exon 26dup SCN1A exon 26dup SCN1A Partial gene duplicationSGENAMarini C.2009
18601-26SCN1A+SCN2A whole gene deletionHaploinsufficiencyIEEDe novoKwong AK.2015
1861 dup 2q24.2-24.3(5.3Mb)dup SCN1A Whole gene duplication Neonatal seizureDe novoOkumura A. 2011
1862 dup 2q24 (6.7Mb)dup SCN1A Whole gene duplicationEpilepsy, early-onsetDe novo Goeggel Simonetti B.2012
1863 dup 2q24 (10.1Mb)dup SCN1A Whole gene duplication Epilepsy, early-onset De novo Goeggel Simonetti B.2012
1864 dup 2q24.3dup SCN1A Whole gene duplication NIEFamilial(Paternal,mosaic,asympt),p=1/1Raymond G. 2011
1865 dup 2q24.3-2q31.1 (11.19Mb)dup SCN1A Whole gene duplication Epilepsy with cognitive impairment /ASDDe novoNicholl J.2013
1866 c.384-16_437dupdup SCN1A Partial gene duplication SMEINACetica V.2017
1867 ex.1dup SCN1A Partial gene duplication SMEINACetica V.2017
1868 ex.3-10,c.384_1662dupdup SCN1A Partial gene duplication SMEINAXu X.2015
1869 t(2;5)(q24.3,q34)translocation Partial gene deletion SMEIDe novoM?ller RS.2008
1870 c.1498_1537delinsGAGGATGAATTCCAAAA complex rearrangementsSMEINAIshii A.2017
1871 t(2;15)unbalanced translocation Partial gene deletion Epilepsy, apnoea, mental retardation & dysmorphic featuresDe novoLanger S.2006
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