Transcript #00000228

Transcript name tuberous sclerosis 1, transcript variant 1
Gene name TSC1 (TSC complex subunit 1)
Chromosome 9
Transcript - NCBI ID NM_000368.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000359.1
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.250G>A r.(?) p.(Ala84Thr)
./. - c.273G>A r.(=) p.(=)
./. - c.291A>G r.(?) p.(Ile97Met)
./. - c.346T>G r.(?) p.(Leu116Val)
./. - c.346T>G r.(?) p.(Leu116Val)
./. - c.346T>G r.(?) p.(Leu116Val)
./. - c.364-50C>T r.(=) p.(=)
./. - c.364-29C>T r.(=) p.(=)
./. - c.364-14C>A r.(=) p.(=)
./. - c.518C>T r.(?) p.(Ala173Val)
./. - c.518C>T r.(?) p.(Ala173Val)
./. - c.518C>T r.(?) p.(Ala173Val)
./. - c.518C>T r.(?) p.(Ala173Val)
./. - c.518C>T r.(?) p.(Ala173Val)
./. - c.532G>A r.(?) p.(Val178Ile)
./. - c.532G>A r.(?) p.(Val178Ile)
./. - c.532G>A r.(?) p.(Val178Ile)
./. - c.532G>A r.(?) p.(Val178Ile)
./. - c.532G>A r.(?) p.(Val178Ile)
./. - c.532G>A r.(?) p.(Val178Ile)
./. - c.532G>A r.(?) p.(Val178Ile)
./. - c.532G>A r.(?) p.(Val178Ile)
./. - c.532G>A r.(?) p.(Val178Ile)
./. - c.532G>A r.(?) p.(Val178Ile)
./. - c.532G>A r.(?) p.(Val178Ile)
./. - c.532G>A r.(?) p.(Val178Ile)
./. - c.652_653insG r.(?) p.(Glu218Glyfs*24)
./. - c.737+34T>G r.(=) p.(=)
./. - c.851G>A r.(?) p.(Arg284His)
./. - c.876C>T r.(=) p.(=)
./. - c.914-14C>T r.(=) p.(=)
./. - c.1001C>T r.(?) p.(Ser334Leu)
./. - c.1001C>T r.(?) p.(Ser334Leu)
./. - c.1001C>T r.(?) p.(Ser334Leu)
./. - c.1002G>A r.(=) p.(=)
./. - c.1030-3C>T r.spl? p.?
./. - c.1053_1054insTG r.(?) p.(Val352Trpfs*5)
./. - c.1209G>A r.(=) p.(=)
./. - c.1263+8_1263+9insATC r.(=) p.(=)
./. - c.1263+8_1263+9insATC r.(=) p.(=)
./. - c.1263+8_1263+9insATC r.(=) p.(=)
./. - c.1263+8_1263+9insATC r.(=) p.(=)
./. - c.1263+8_1263+9insATC r.(=) p.(=)
./. - c.1263+8_1263+9insATC r.(=) p.(=)
./. - c.1263+8_1263+9insATC r.(=) p.(=)
./. - c.1263+8_1263+9insATC r.(=) p.(=)
./. - c.1263+37C>T r.(=) p.(=)
./. - c.1264-47G>A r.(=) p.(=)
./. - c.1264-9T>C r.(=) p.(=)
./. - c.1296A>C r.(=) p.(=)
./. - c.1296A>C r.(=) p.(=)
./. - c.1302A>G r.(=) p.(=)
./. - c.1333+13C>T r.(=) p.(=)
./. - c.1333+13C>T r.(=) p.(=)
./. - c.1438+44C>T r.(=) p.(=)
./. - c.1439-21del r.(=) p.(=)
./. - c.1589G>C r.(?) p.(Ser530Thr)
./. - c.1648C>G r.(?) p.(Gln550Glu)
./. - c.1648C>G r.(?) p.(Gln550Glu)
./. - c.1648C>G r.(?) p.(Gln550Glu)
./. - c.1648C>G r.(?) p.(Gln550Glu)
./. - c.1648C>G r.(?) p.(Gln550Glu)
./. - c.1648C>G r.(?) p.(Gln550Glu)
./. - c.1648C>G r.(?) p.(Gln550Glu)
./. - c.1648C>G r.(?) p.(Gln550Glu)
./. - c.1685C>G r.(?) p.(Ala562Gly)
./. - c.1700C>T r.(?) p.(Ala567Val)
./. - c.1749C>T r.(=) p.(=)
./. - c.1916G>T r.(?) p.(Gly639Val)
./. - c.1936A>G r.(?) p.(Met646Val)
./. - c.1943T>C r.(?) p.(Val648Ala)
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