All transcript variants in gene SCN1A

Information The variants shown are described using the NM_001165963.1 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Owner     
./+? 2 c.296_313delTCTTCCGGTTCAGTGCCA r.(?) p.(Ile99_Ala104del) g.166058640_166058657delTGGCACTGAACCGGAAGA - SCN1A_000014 - Marina Gonsales
./+? 2i c.383+1A>G r.spl? p.? g.166058569T>C - SCN1A_000007 - Marina Gonsales
./+? 4i c.602+1G>A r.spl? p.? g.166054637C>T - SCN1A_000008 - Marina Gonsales
./+? 6 c.829T>C r.(?) p.(Cys277Arg) g.166051854A>G - SCN1A_000001 - Marina Gonsales
./+? 7 c.971A>C r.(?) p.(His324Pro) g.166048943T>G - SCN1A_000002 - Marina Gonsales
+?/. 8i c.1170+3G>T r.spl? p.? g.166047624C>A - SCN1A_000009 - Marina Gonsales
./+? 9 c.1242delA r.(?) p.(Ile415*) g.166046905delT - SCN1A_000011 - Marina Gonsales
./+? 13 c.2360T>G r.(?) p.(Met787Arg) g.166041286A>C - SCN1A_000003 - Marina Gonsales
./+? 19 c.3719_3720insGATA r.(?) p.(Ile1240Metfs*5) g.166012268_166012269insTATC - SCN1A_000012 - Marina Gonsales
./+? 21 c.4093G>T r.(?) p.(Gly1365Cys) g.166002663C>A - SCN1A_000004 - Marina Gonsales
+?/. 21i c.4284+1G>A r.spl? p.? g.166002471C>T - SCN1A_000010 - Marina Gonsales
./+? 26 c.5177G>A r.(?) p.(Trp1726*) g.165992098C>T - SCN1A_000016 - Marina Gonsales
./+? 26 c.5179G>T r.(?) p.(Asp1727Tyr) g.165992096C>A - SCN1A_000005 - Marina Gonsales
./+? 26 c.5329delG r.(?) p.(Val1777Trpfs*2) g.165991946delC - SCN1A_000013 - Marina Gonsales
./+? 26 c.5434T>C r.(?) p.(Trp1812Arg) g.165991841A>G - SCN1A_000006 - Marina Gonsales
./+? 26 c.5489_5491delAGT r.(?) p.(Gln1830_Phe1831delinsLeu) g.165991784_165991786delACT - SCN1A_000015 - Marina Gonsales
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