Unique variants in the TSC2 gene

Information The variants shown are described using the NM_000548.4 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
+/. 1 1-15 c.1_1716del - r.? p.? - - g.2048616_2065635del - Nur Farrah Dila Ismail et al. (2017) TSC2_000022 - 1/18 - Nuur Athirah Binti Mohd Daud
+/. 1 3 c.266T>A - r.(?) p.(Leu89*) - - g.2053382T>A L89X Nur Farrah Dila Ismail et al. (2017) TSC2_000001 rs267607244 1/10 - Nuur Athirah Binti Mohd Daud
+/. 1 7 c.705dupC - r.(?) p.(Leu236Profs*102) - - g.2056701dup c.705insC;p.S235SFsX337 Nur Farrah Dila Ismail et al. (2017) TSC2_000025 rs879254653 1/18 - Nuur Athirah Binti Mohd Daud
+/. 1 8 c.826_827delAT - r.(?) p.(Met276Valfs*61) - ClinVar g.2057156_2057157del M276VFsX337 Nur Farrah Dila Ismail et al. (2017), dbSNP, ClinVar TSC2_000002 rs137853977 1/10 - Nuur Athirah Binti Mohd Daud
./. 1 8 c.833A>C - r.(?) p.(His278Pro) - ClinVar g.2057163A>C H278P Nur Farrah Dila Ismail et al. (2017), dbSNP, ClinVar TSC2_000011 rs397515266 1/18 - Nuur Athirah Binti Mohd Daud
./. 1 9 c.856A>G - r.(?) p.(Met286Val) - ClinVar g.2058754A>G M286V Nur Farrah Dila Ismail et al. (2017), dbSNP, ClinVar TSC2_000013 rs1800748 1/18 - Nuur Athirah Binti Mohd Daud
-/. 1 10 c.1100G>A - r.(?) p.(Arg367Gln) - ClinVar g.2060794G>A R367Q Nur Farrah Dila Ismail et al. (2017), dbSNP, ClinVar TSC2_000008 rs1800725 1/10 - Nuur Athirah Binti Mohd Daud
./. 1 21i c.1361+1G>A - r.spl? p.? - ClinVar g.2062601G>A - Nur Farrah Dila Ismail et al. (2017), dbSNP, ClinVar TSC2_000015 rs45517164 1/18 - Nuur Athirah Binti Mohd Daud
+/. 1 15 c.1714C>T - r.(?) p.(Gln572*) - - g.2065633C>T Q572X Nur Farrah Dila Ismail et al. (2017), ClinVar TSC2_000016 - 1/18 - Nuur Athirah Binti Mohd Daud
?/. 1 16 c.1825A>G - r.(?) p.(Ser609Gly) - ClinVar g.2070564A>G S609G Nur Farrah Dila Ismail et al. (2017), dbSNP, ClinVar TSC2_000014 rs1596344129 1/18 - Nuur Athirah Binti Mohd Daud
./. 1 18 c.2032G>A - r.(?) p.(Ala678Thr) - ClinVar g.2071869G>A A678T Nur Farrah Dila Ismail et al. (2017), dbSNP, ClinVar TSC2_000020 rs200494044 1/18 - Nuur Athirah Binti Mohd Daud
+/. 1 23 c.2656_2657insGT - r.(?) p.(Val886Glyfs*9) - - g.2076084_2076085insGT V886GFsX895 Nur Farrah Dila Ismail et al. (2017) TSC2_000012 - 1/18 - Nuur Athirah Binti Mohd Daud
+/. 2 26-31 c.2967_3883del - r.(?) p.(Ser989Argfs*27) - - g.2079032_2082504del del_ex26-ex31;2967_3883del917bp p.S990RFsX1016, g.del_ex26-ex31; c.2970-3886del917bp; p.S990R-FsX36 Nur Farrah Dila Ismail et al. (2017), Nur Farrah Dila Ismail et al.(2014) TSC2_000009 - 1/10 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 27 c.3230C>A - r.(?) p.(Thr1077Asn) - - g.2079374C>A T1077N Nur Farrah Dila Ismail et al. (2017) TSC2_000010 rs876659824 1/10 - Nuur Athirah Binti Mohd Daud
./. 1 29 c.3581G>A - r.(?) p.(Trp1194*) - ClinVar g.2080348G>A W1194X Nur Farrah Dila Ismail et al. (2017), dbSNP, ClinVar TSC2_000017 rs397515168 1/18 - Nuur Athirah Binti Mohd Daud
?/. 1 29 c.3595G>A - r.(?) p.(Val1199Ile) - ClinVar g.2080362G>A V1199I Nur Farrah Dila Ismail et al. (2017), dbSNP, ClinVar TSC2_000023 rs1596390891 1/18 - Nuur Athirah Binti Mohd Daud
+/. 1 29 c.3596T>C - r.(?) p.(Val1199Ala) - - g.2080363T>C V1199T Nur Farrah Dila Ismail et al. (2017) TSC2_000024 rs1603274834 1/18 - Nuur Athirah Binti Mohd Daud
+/., ?/. 2 30 c.3755C>A - r.(?) p.(Ser1252*) - ClinVar g.2081739C>A S1252X Nur Farrah Dila Ismail et al. (2017), dbSNP, ClinVar TSC2_000005 rs1027773484 1/10, 2/18 - Nuur Athirah Binti Mohd Daud
+/. 2 32-41 c.3884_5424del - r.? p.? - - g.2083695_2088610del, g.39390_44305del g.del_ex32-41; c.3887-5404del1516bp; p.A1295X Nur Farrah Dila Ismail et al. (2017), Nur Farrah Dila Ismail et al.(2014) TSC2_000021 - 1/18 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 32 c.3999C>A - r.(?) p.(Tyr1333*) - ClinVar g.2083810C>A Y1333X Nur Farrah Dila Ismail et al. (2017), dbSNP, ClinVar TSC2_000006 rs775604492 1/10 - Nuur Athirah Binti Mohd Daud
+/. 1 33 c.4344_4345insC - r.(?) p.(Ser1449Leufs*75) - - g.2084566dup S1448FsX1523 Nur Farrah Dila Ismail et al. (2017) TSC2_000018 - 1/18 - Nuur Athirah Binti Mohd Daud
+/. 1 37 c.4925G>A - r.(?) p.(Gly1642Asp) - ClinVar g.2086807G>A G1642D Nur Farrah Dila Ismail et al. (2017), dbSNP, ClinVar TSC2_000003 rs137854343 1/10 - Nuur Athirah Binti Mohd Daud
+/. 1 38 c.4993C>T - r.(?) p.(Gln1665*) - ClinVar g.2087866C>T Q1665X Nur Farrah Dila Ismail et al. (2017), dbSNP, ClinVar TSC2_000007 rs45448101 1/10 - Nuur Athirah Binti Mohd Daud
+/. 1 39 c.5074_5075insG - r.(?) p.(Glu1692Glyfs*14) - - g.2088053dup E1692GFsX1706 Nur Farrah Dila Ismail et al. (2017) TSC2_000019 - 1/18 - Nuur Athirah Binti Mohd Daud
+/. 1 40 c.5228G>A - r.(?) p.(Arg1743Gln) - ClinVar g.2088294G>A R1743Q Nur Farrah Dila Ismail et al. (2017), dbSNP, ClinVar TSC2_000004 rs45507199 1/10 - Nuur Athirah Binti Mohd Daud
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