Full data view for gene SCN1A

Information The variants shown are described using the NM_001165963.2 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

Allele     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Template     

Technique     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

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Owner     
+/. 1 c.247T>G - r.(?) p.(Tyr83Asp) - - Unknown g.166073375A>C - - SCN1A_000014 rs1584294942 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.265-699A>G - r.(=) p.(=) - - Unknown g.19253A>G - Larry Baum et al.(2014) SCN1A_000009 rs10188577 - - DNA ? Epilepsy Larry Baum et al.(2014) - Kuala Lumpur - - - - 1 Nur Aisyah Athirah
?/. - c.280A>C - r.(?) p.(Asn94His) - ClinVar Unknown g.166058673T>G - dbSNP, ClinVar SCN1A_000029 rs755835349 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.424T>C - r.(?) p.(Cys142Arg) - - Unknown g.166056460A>G - - SCN1A_000043 rs780232692 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.506C>G - r.(?) p.(Ser169*) - - Unknown g.166054734G>C - dbSNP SCN1A_000035 rs104893734 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.602+1G>A - r.spl? p.? - - Unknown g.166054637C>T - ClinVar SCN1A_000046 - 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.603-91G>A - r.(=) p.(=) - ClinVar Unknown g.166053034C>T - Batoul Sadat Haerian et al. (2015), dbSNP, ClinVar SCN1A_000008 rs3812718 66/151 - DNA SEQ, SBE Epilepsy Batoul Sadat Haerian et al. (2015) - Malaysia Indian - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.603-91G>A - r.(=) p.(=) - drug response Unknown g.166909544C>T - Batoul Sadat Haerian et al. (2015),ClinVar SCN1A_000008 rs3812718 - - DNA SBE Epilepsy Batoul Sadat Haerian et al. (2015) - Malaysia Chinese - - - 1 Nur Aisyah Athirah
+/. - c.603-91G>A - r.(=) p.(=) - drug response Unknown g.166909544C>T - Batoul Sadat Haerian et al. (2015) SCN1A_000008 rs3812718 - - DNA SBE Epilepsy Batoul Sadat Haerian et al. (2015) - Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.603-91G>A - r.(=) p.(=) - ClinVar Both (homozygous) g.166053034C>T - Batoul Sadat Haerian et al. (2015), dbSNP, ClinVar SCN1A_000008 rs3812718 37/243 - DNA SEQ, SBE Epilepsy Batoul Sadat Haerian et al. (2015) - Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.603-91G>A - r.(=) p.(=) - ClinVar Unknown g.166053034C>T - Batoul Sadat Haerian et al. (2015), dbSNP, ClinVar SCN1A_000008 rs3812718 114/243 - DNA SEQ, SBE Epilepsy Batoul Sadat Haerian et al. (2015) - Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.603-91G>A - r.(=) p.(=) - ClinVar Both (homozygous) g.166053034C>T - Batoul Sadat Haerian et al. (2015), dbSNP, ClinVar SCN1A_000008 rs3812718 19/151 - DNA SEQ, SBE Epilepsy Batoul Sadat Haerian et al. (2015) - Malaysia Indian - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.603-91G>A - r.(=) p.(=) - ClinVar Both (homozygous) g.166053034C>T - Batoul Sadat Haerian et al. (2015), dbSNP, ClinVar SCN1A_000008 rs3812718 39/282 - DNA SEQ, SBE Epilepsy Batoul Sadat Haerian et al. (2015) - Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.603-91G>A - r.(=) p.(=) - ClinVar Unknown g.166053034C>T - Batoul Sadat Haerian et al. (2015), dbSNP, ClinVar SCN1A_000008 rs3812718 130/282 - DNA SEQ, SBE Epilepsy Batoul Sadat Haerian et al. (2015) - Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.603-91G>A - r.(=) p.(=) - drug response Unknown g.166909544C>T - Batoul Sadat Haerian et al. (2015) SCN1A_000008 rs3812718 - - DNA SBE Epilepsy Batoul Sadat Haerian et al. (2015) - Malaysia Indian - - - 1 Nur Aisyah Athirah
+/. - c.603-91G>A - r.(=) p.(=) - - Unknown g.25606G>A IVS5N+5G>A Larry Baum et al.(2014) SCN1A_000008 rs3812718 - - DNA ? Epilepsy Larry Baum et al.(2014) - Kuala Lumpur - - - - 1 Nur Aisyah Athirah
+/. - c.654_655delCA - r.(?) p.(Phe218Leufs*58) - - Unknown g.166052891_166052892del - - SCN1A_000039 rs1591828796 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.838T>C - r.(?) p.(Trp280Arg) - ClinVar Unknown g.166051845A>G - dbSNP, ClinVar SCN1A_000027 rs121917938 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.942G>A - r.(?) p.(Trp314*) - - Unknown g.166051741C>T - - SCN1A_000033 rs763363403 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.1034G>A - r.(?) p.(Cys345Tyr) - ClinVar Unknown g.166047763C>T - dbSNP, ClinVar SCN1A_000041 rs1057518243 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
-/. 8 c.1152G>A - r.(?) p.(Trp384*) - ClinVar Unknown g.166047645C>T - dbSNP, ClinVar SCN1A_000022 rs6434811 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. 9 c.1177C>T - r.(?) p.(Arg393Cys) - ClinVar Unknown g.166046970G>A - dbSNP, ClinVar SCN1A_000025 rs121917929 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. 9 c.1259C>T - r.(?) p.(Ala420Val) - ClinVar Unknown g.166046888G>A A420V Emmilia Husni Tan et al. (2012), dbSNP, ClinVar SCN1A_000001 rs794726826 1/9 - DNA DHPLC, PCR GEFS+ Emmilia Husni Tan et al. (2012) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.1377+1G>A - r.spl? p.? - - Unknown g.166046769C>T - - SCN1A_000031 rs863223406 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. 11 c.1702C>T - r.(?) p.(Arg568*) - ClinVar Unknown g.166044010G>A - dbSNP, ClinVar SCN1A_000020 rs886039430 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.1813_1814del - r.(?) p.(Asp606Phefs*21) - - Unknown g.166043898_166043899del c.1813_1814delAG - SCN1A_000038 rs1555163017 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.2068_2069insT - r.(?) p.(Arg690Metfs*39) - - Unknown g.166042399_166042400insA - - SCN1A_000036 - 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. 12 c.2134C>T - r.(?) p.(Arg712*) - ClinVar Unknown g.166042334G>A - dbSNP , ClinVar SCN1A_000021 rs794726730 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. 12 c.2173G>A - r.(?) p.(Glu725Lys) - - Unknown g.166042295C>T E715K Emmilia Husni Tan et al. (2012) SCN1A_000002 rs192221816 1/9 - DNA DHPLC, PCR GEFS+ Emmilia Husni Tan et al. (2012) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.2415+2T>A - r.spl? p.? - - Unknown g.166041229A>T - - SCN1A_000032 - 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. 14 c.2439A>T - r.(=) p.(=) - - Unknown g.166039573T>A P814P,T2439A Emmilia Husni Tan et al. (2012) SCN1A_000003 rs34835657 1/9 - DNA DHPLC, PCR GEFS+ Emmilia Husni Tan et al. (2012) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.2589+3A>T - r.spl? p.? - ClinVar Unknown g.166039420T>A - dbSNP, ClinVar SCN1A_000030 rs794726775 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. 15 c.2643G>C - r.(?) p.(Lys881Asn) - - Unknown g.166038079C>G K871N,G2610C Emmilia Husni Tan et al. (2012) SCN1A_000004 rs776985592 1/9 - DNA DHPLC, PCR GEFS+ Emmilia Husni Tan et al. (2012) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.2836C>T - r.(?) p.(Arg946Cys) - - Unknown g.166037886G>A - ClinVar SCN1A_000028 - 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.2837G>A - r.(?) p.(Arg946His) - - Unknown g.166037885C>T - ClinVar SCN1A_000044 - 2/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.3079A>T - r.(?) p.(Lys1027*) - - Unknown g.166036398T>A - - SCN1A_000037 - 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
?/. 16 c.3099delT - r.(?) p.(Phe1033Leufs*13) - ClinVar Unknown g.166036380del - dbSNP, ClinVar SCN1A_000018 rs1599651707 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.3199G>C - r.(?) p.(Ala1067Pro) - Benign Unknown g.42362G>C - Larry Baum et al.(2014) SCN1A_000010 rs2298771 - - DNA ? Epilepsy Larry Baum et al.(2014) - Kuala Lumpur - - - - 1 Nur Aisyah Athirah
+/. - c.3829C>T - r.(?) p.(Gln1277*) - - Unknown g.166012159G>A - ClinVar SCN1A_000040 - 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. 20 c.3943_3949del - r.(?) p.(Leu1315Hisfs*2) - - Unknown g.166009772_166009778del 3943_3949delCTCAGGA - SCN1A_000019 - 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.4072T>C - r.(?) p.(Trp1358Arg) - - Unknown g.166002684A>G - - SCN1A_000045 rs377054979 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. 22 c.4324G>C - r.(?) p.(Val1442Leu) - - Unknown g.165999737C>G V1432L,G4291C Emmilia Husni Tan et al. (2012) SCN1A_000005 - 1/9 - DNA DHPLC, PCR GEFS+ Emmilia Husni Tan et al. (2012) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. 24 c.4547C>A - r.(?) p.(Ser1516*) - ClinVar Unknown g.165996047G>T - dbSNP, ClinVar SCN1A_000015 rs139300715 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. 25 c.4649T>G - r.(?) p.(Leu1550Arg) - - Unknown g.165994349A>C - - SCN1A_000026 rs200655479 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.4786_4788delCGC - r.(?) p.(Arg1596del) - - Unknown g.165994210_165994212del - - SCN1A_000047 - 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. 25 c.4790A>G - r.(?) p.(His1597Arg) - - Unknown g.165994208T>C H1583R,A4748G Emmilia Husni Tan et al. (2012) SCN1A_000006 - 1/9 - DNA DHPLC, PCR GEFS+ Emmilia Husni Tan et al. (2012) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. 26 c.4906C>T - r.(?) p.(Arg1636*) - ClinVar Unknown g.165992369G>A - dbSNP, ClinVar SCN1A_000013 rs199727342 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. 26 c.5129T>G - r.(?) p.(Phe1710Cys) - ClinVar Unknown g.165992146A>C - dbSNP, ClinVar SCN1A_000024 rs1315439478 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. 26 c.5155C>T - r.(?) p.(Gln1719*) - - Unknown g.165992120G>A - - SCN1A_000023 rs782367966 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. 26 c.5197A>G - r.(?) p.(Ile1733Val) - - Unknown g.5694A>G - Emmilia H Tan et al.(2012) SCN1A_000011 rs138287354 - - ? ? GEFS+ Emmilia H Tan et al.(2012) M Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. 26 c.5230A>G - r.(?) p.(Asn1744Asp) - - Unknown g.165992045T>C N1733D,A5197G Emmilia Husni Tan et al. (2012) SCN1A_000007 rs376234802 1/9 - DNA DHPLC, PCR GEFS+ Emmilia Husni Tan et al. (2012) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.5345T>C - r.(?) p.(Ile1782Thr) - - Unknown g.165991930A>G - - SCN1A_000042 rs80356905 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. 26 c.5656C>T - r.(?) p.(Arg1886*) - ClinVar Unknown g.165991619G>A - dbSNP, ClinVar SCN1A_000017 rs779614747 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.5734C>T - r.(?) p.(Arg1912*) - ClinVar Unknown g.165991541G>A - dbSNP, ClinVar SCN1A_000034 rs77216276 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. 26 c.5753C>T - r.(?) p.(Ser1918Phe) - Likely Pathogenic Unknown g.165991522G>A - Chung-Kin Chan et al.(2020) SCN1A_000012 rs796053048 - - DNA PCR, SEQ, TaqMan GGE Chung-Kin Chan et al.(2020) - Malaysia Chinese - - - 1 Nur Aisyah Athirah
+/. 26 c.5788delC - r.(?) p.(Leu1930Phefs*2) - - Unknown g.165991488del - - SCN1A_000016 - 1/38 - DNA MLPA, PCR, SEQ Epilepsy Siti Aishah Abdul Wahab et al. 2017 (http://www.neurology-asia.org/articles/neuroasia-2017-22(2)-099.pdf) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
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