Transcript #00000230

Transcript name tuberous sclerosis 1, transcript variant 4
Gene name TSC1 (TSC complex subunit 1)
Chromosome 9
Transcript - NCBI ID NM_001162427.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001155899.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

198 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-44G>A r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.-7C>T r.(=) p.(=)
./. - c.45C>T r.(=) p.(=)
./. - c.106+47A>C r.(=) p.(=)
./. - c.106+47A>C r.(=) p.(=)
./. - c.147C>G r.(?) p.(Tyr49*)
./. - c.210+1501G>A r.(=) p.(=)
./. - c.210+1524G>A r.(=) p.(=)
./. - c.210+1542A>G r.(=) p.(=)
./. - c.210+1597T>G r.(=) p.(=)
./. - c.210+1597T>G r.(=) p.(=)
./. - c.210+1597T>G r.(=) p.(=)
./. - c.211-50C>T r.(=) p.(=)
./. - c.211-29C>T r.(=) p.(=)
./. - c.211-14C>A r.(=) p.(=)
./. - c.365C>T r.(?) p.(Ala122Val)
./. - c.365C>T r.(?) p.(Ala122Val)
./. - c.365C>T r.(?) p.(Ala122Val)
./. - c.365C>T r.(?) p.(Ala122Val)
./. - c.365C>T r.(?) p.(Ala122Val)
./. - c.379G>A r.(?) p.(Val127Ile)
./. - c.379G>A r.(?) p.(Val127Ile)
./. - c.379G>A r.(?) p.(Val127Ile)
./. - c.379G>A r.(?) p.(Val127Ile)
./. - c.379G>A r.(?) p.(Val127Ile)
./. - c.379G>A r.(?) p.(Val127Ile)
./. - c.379G>A r.(?) p.(Val127Ile)
./. - c.379G>A r.(?) p.(Val127Ile)
./. - c.379G>A r.(?) p.(Val127Ile)
./. - c.379G>A r.(?) p.(Val127Ile)
./. - c.379G>A r.(?) p.(Val127Ile)
./. - c.379G>A r.(?) p.(Val127Ile)
./. - c.499_500insG r.(?) p.(Glu167Glyfs*24)
./. - c.584+34T>G r.(=) p.(=)
./. - c.698G>A r.(?) p.(Arg233His)
./. - c.723C>T r.(=) p.(=)
./. - c.761-14C>T r.(=) p.(=)
./. - c.848C>T r.(?) p.(Ser283Leu)
./. - c.848C>T r.(?) p.(Ser283Leu)
./. - c.848C>T r.(?) p.(Ser283Leu)
./. - c.849G>A r.(=) p.(=)
./. - c.877-3C>T r.spl? p.?
./. - c.900_901insTG r.(?) p.(Val301Trpfs*5)
./. - c.1056G>A r.(=) p.(=)
./. - c.1110+8_1110+9insATC r.(=) p.(=)
./. - c.1110+8_1110+9insATC r.(=) p.(=)
./. - c.1110+8_1110+9insATC r.(=) p.(=)
./. - c.1110+8_1110+9insATC r.(=) p.(=)
./. - c.1110+8_1110+9insATC r.(=) p.(=)
./. - c.1110+8_1110+9insATC r.(=) p.(=)
./. - c.1110+8_1110+9insATC r.(=) p.(=)
./. - c.1110+8_1110+9insATC r.(=) p.(=)
./. - c.1110+37C>T r.(=) p.(=)
./. - c.1111-47G>A r.(=) p.(=)
./. - c.1111-9T>C r.(=) p.(=)
./. - c.1143A>C r.(=) p.(=)
./. - c.1143A>C r.(=) p.(=)
./. - c.1149A>G r.(=) p.(=)
./. - c.1180+13C>T r.(=) p.(=)
./. - c.1180+13C>T r.(=) p.(=)
./. - c.1285+44C>T r.(=) p.(=)
./. - c.1286-21del r.(=) p.(=)
./. - c.1436G>C r.(?) p.(Ser479Thr)
./. - c.1495C>G r.(?) p.(Gln499Glu)
./. - c.1495C>G r.(?) p.(Gln499Glu)
./. - c.1495C>G r.(?) p.(Gln499Glu)
./. - c.1495C>G r.(?) p.(Gln499Glu)
./. - c.1495C>G r.(?) p.(Gln499Glu)
./. - c.1495C>G r.(?) p.(Gln499Glu)
./. - c.1495C>G r.(?) p.(Gln499Glu)
./. - c.1495C>G r.(?) p.(Gln499Glu)
./. - c.1532C>G r.(?) p.(Ala511Gly)
./. - c.1547C>T r.(?) p.(Ala516Val)
./. - c.1596C>T r.(=) p.(=)
./. - c.1763G>T r.(?) p.(Gly588Val)
./. - c.1783A>G r.(?) p.(Met595Val)
./. - c.1790T>C r.(?) p.(Val597Ala)
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