By variant position
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Latest mutation
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SCN1A mutations list 37/38
...   33    34    35    36    37    38  
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
1801 del SCN1A (0.750 Mb)del SCN1A Whole gene deletionSMEINAWang JW.2008
1802 del SCN1A (1.139 Mb)del SCN1A Whole gene deletionSMEINAWang JW.2008
1803 del SCN1A (1.277 Mb)del SCN1A Whole gene deletionSMEIDe novoWang JW.2008
1804 del SCN1A (1.49 Mb)del SCN1A Whole gene deletionSMENAMarini C.2009
1805 del SCN1A (1.5 Mb)del SCN1A Whole gene deletionMMPSI NALim BC.2015
1806 del SCN1A (1.549 Mb)del SCN1A Whole gene deletionSMEINAWang JW.2008
1807 del SCN1A (1.74 Mb) del SCN1A Whole gene deletionEpilepsy NA Olson N.2014
1808 del SCN1A (3.1 Mb)del SCN1A Whole gene deletionSMEIDe novoMadia F.2006
1809 del SCN1A (4 Mb)del SCN1A Whole gene deletionSMEIDe novoSuls A. 2006
1810 del SCN1A (4.3 Mb) del SCN1A Whole gene deletion MMPSI NA Lim BC.2015
1811 del SCN1A (4.5 Mb)del SCN1A Whole gene deletionSMEIDe novoSuls A. 2006
1812 del SCN1A (4.7 Mb)del SCN1A Whole gene deletionSMEIDe novoMadia F.2006
1813 del SCN1A (4.87 Mb)del SCN1A Whole gene deletionSMENAMarini C.2009
1814 del SCN1A (5Mb)del SCN1A Whole gene deletionSMEI+Leigh syndromeNASuls A. 2006
1815 del SCN1A (6 Mb)del SCN1A Whole gene deletionSMEDe novoMarini C.2009
1816 del SCN1A (6.34 Mb) del SCN1A Whole gene deletion Epilepsy NA Olson N.2014
1817 del SCN1A (8.4 Mb) del SCN1A Whole gene deletion MMPSI NA Lim BC.2015
1818 del SCN1A (9.3 Mb)del SCN1A Whole gene deletionSMEDe novoMarini C.2009
1819 del SCN1A (10.29-10.58Mb)del SCN1A Whole gene deletion Seizures, developmental delay, growth retardation, microcephaly & micrognathiaDe novo Pescucci C.2007
1820 del SCN1A (10.4 Mb)del SCN1A Whole gene deletionSMEIDe novoDavidsson J.2008
1821 del SCN1A (11.6 Mb) del SCN1A Whole gene deletion MMPSI De novo Carranza RD.2011
1822 ~103Kb TTC21B TTC21B-AS1 & LOC102724058del SCN1A partial gene deletion Neurodevelopmental disorderNAPfundt R.2017
1823 ~3.1 Mb incl. SCN9A, ABCB11 and LRP2del SCN1A, 9A, ABCB11 and LRP2 partial gene deletion SMEINAMa Y.2016
1824 ~50 Kb incl. LOC102724058del SCN1A partial gene deletion Neurodevelopmental disorderNAPfundt R.2017
1825 0.2 Mb incl. entire genedel SCN1A whole gene deletion SMEINALim BC.2015
1826 0.2 Mb incl. ex. 1-20 + part of SCN9Adel SCN1A, 9A whole gene deletion SMEINALim BC.2015
1827 1.5Mb incl. entire gene + SCN3A, SCN2A, SCN9A & SCN7Adel SCN1A, 2A, 3A, 7A, 9A partial gene deletion Migrating partial seizures of infancy, severe developmental delay and acquired microcephalyNALim BC.2015
1828 170bp incl. 64bp of ex. 7del SCN1A partial gene deletion SMEIDe novoDo TT.2017
1829 27bp c.2877_2903del SCN1A partial gene deletion SMEIDe novoYang X.2017
1830 36 bp, c.622_657del SCN1A partial gene deletion SMEINAde Lange IM.2018
1831 4.1Mb incl. entire gene, SCN2A, SCN3A, SCN9A & othersdel SCN1A, 2A, 3A, 9A whole gene deletion Epilepsy of infancy with migrating focal seizures, developmental delay & cleft palateNAFry AE.2016
1832 4.3Mb incl. entire gene + SCN3A, SCN2A, SCN9A & SCN7Adel SCN1A, 2A, 3A, 7A, 9A whole gene deletion Migrating partial seizures of infancy, severe developmental delay and acquired microcephalyNALim BC.2015
1833 76kb incl .ex. 4-28del SCN1A partial gene deletion Developmental delay, poor coordination, joint contractures & seizuresNAFry AE.2016
1834 8.4 Mb incl. entire gene + SCN3A, SCN2A, SCN9A & SCN7Adel SCN1A, 2A, 3A, 7A, 9A whole gene deletion Migrating partial seizures of infancy, severe developmental delay and acquired microcephalyNALim BC.2015
1835 c.2177-1_-39del SCN1A partial gene deletion SMEINAIshii A.2017
1836 c.2895_2962deldel SCN1A partial gene deletion Pediatric refractory epilepsyNALiu J.2018
1837 c.384_473del90/p.Leu129_Glu158deldel SCN1A partial gene deletion SMEINAXu X.2015
1838 c.4338_6030del SCN1A partial gene deletion SMEINAXu X.2015
1839 c.474_602del129/p.Thr160_Tyr202deldel SCN1A partial gene deletion SMEINAXu X.2015
1840 ex. 5-8del SCN1A exon 5-8 partial gene deletion SMEIDe novoEsterhuizen AI.2018
1841 ex. 11-12, c.1663_2176del SCN1A exon 11-12 partial gene deletion SMEINAXu X.2015
1842 ex. 12_26, c.2044_6030del SCN1A exon 12-26 partial gene deletion SMEINAXu X.2015
1843 ex. 17-20del SCN1A exon 17-20 partial gene deletion SMEINASkjei KL.2015
1844 ex. 22-23, c.4285_4476del SCN1A exon 22-23 partial gene deletion SMEINAXu X.2015
1845 ex. 2-3del SCN1A exon 2-3 partial gene deletion SMEINAIshii A.2017
1846 ex. 3-6 ,c.384_964deldel SCN1A 3-6 partial gene deletion SMEINAXu X.2015
1847 ex. 7del SCN1A exon 7 partial gene deletion SMEINAIshii A.2017
1848 ex. 1-13del SCN1A exon 1-13 partial gene deletion SMEINACetica V.2017
1849 Incl. ex2-23del SCN1A 2-23 partial gene deletion SMEINAde Lange IM.2018
1850exon 26amp SCN1A exon 26amp SCN1A Partial gene amplificationSMENAMarini C.2009
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