Unique variants in gene STK11

Information The variants shown are described using the NM_000455.4 transcript reference sequence.

66 entries on 1 page. Showing entries 1 - 66.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
./. 3 - c.42G>A r.(=) p.(=) g.1206954G>A - STK11_000008 - - - - - - - Despoina Kalfakakou
./. 1 - c.81C>T r.(=) p.(=) g.1206993C>T - STK11_000010 - - - - - - - Despoina Kalfakakou
+/+ 1 - c.169G>T r.(?) p.(Glu57*) g.1207081G>T - STK11_000059 - - Germline ? - - N/A Despoina Kalfakakou
?/+ 1 - c.216_263del r.(?) p.(Cys73_Ile88del) g.1207128_1207175del - STK11_000063 - - Germline ? - - - Despoina Kalfakakou
+/+, ./. 2 - c.219C>A r.(?) p.(Cys73*) g.1207131C>A - STK11_000024 - - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.250A>T r.(?) p.(Lys84*) g.1207162A>T - STK11_000054 - - Germline ? - - N/A Despoina Kalfakakou
+/+ 1 - c.290+1G>A r.spl? p.? g.1207203G>A - STK11_000057 - - Germline ? - - N/A Despoina Kalfakakou
./. 1 - c.291-40C>G r.(=) p.(=) g.1218376C>G - STK11_000062 - - - - - - - Despoina Kalfakakou
./. 1 - c.291-40C>T r.(=) p.(=) g.1218376C>T - STK11_000036 - - - - - - - Despoina Kalfakakou
./. 1 - c.291-14C>T r.(=) p.(=) g.1218402C>T - STK11_000025 - - - - - - - Despoina Kalfakakou
./. 1 - c.312G>C r.(?) p.(Arg104Ser) g.1218437G>C - STK11_000020 - - - - - - - Despoina Kalfakakou
./. 1 - c.363G>A r.(=) p.(=) g.1218488G>A - STK11_000004 - - - - - - - Despoina Kalfakakou
./. 1 - c.375-44G>A r.(=) p.(=) g.1219279G>A - STK11_000031 - - - - - - - Despoina Kalfakakou
+/+ 1 - c.375_376del r.(?) p.(Met125Ilefs*37) g.1219323_1219324del - STK11_000053 - - Germline ? - - N/A Despoina Kalfakakou
./. 2 - c.432G>A r.(=) p.(=) g.1219380G>A - STK11_000015 - - - - - - - Despoina Kalfakakou
./. 6 - c.440G>A r.(?) p.(Arg147His) g.1219388G>A - STK11_000011 - - - - - - - Despoina Kalfakakou
./. 2 - c.464+10C>T r.(=) p.(=) g.1219422C>T - STK11_000028 - - - - - - - Despoina Kalfakakou
./. 1 - c.464+34G>T r.(=) p.(=) g.1219446G>T - STK11_000016 - - - - - - - Despoina Kalfakakou
./. 11 - c.464+47A>G r.(=) p.(=) g.1219459A>G - STK11_000009 - - - - - - - Despoina Kalfakakou
./. 1 - c.464+49_464+50insGGC r.(=) p.(=) g.1219461_1219462insGGC - STK11_000037 - - - - - - - Despoina Kalfakakou
./. 2 - c.465-5C>T r.spl? p.? g.1220367C>T - STK11_000017 - - - - - - - Despoina Kalfakakou
./. 1 - c.537G>A r.(=) p.(=) g.1220444G>A - STK11_000005 - - - - - - - Despoina Kalfakakou
./. 1 - c.559G>A r.(?) p.(Gly187Ser) g.1220466G>A - STK11_000041 - - - - - - - Despoina Kalfakakou
./. 1 - c.579C>T r.(=) p.(=) g.1220486C>T - STK11_000038 - - - - - - - Despoina Kalfakakou
./. 2 - c.597+14del r.(=) p.(=) g.1220518del - STK11_000032 - - - - - - - Despoina Kalfakakou
./. 1 - c.597+14_597+15insG r.(=) p.(=) g.1220518_1220519insG - STK11_000049 - - - - - - - Despoina Kalfakakou
./. 1 - c.612C>T r.(=) p.(=) g.1220594C>T - STK11_000050 - - - - - - - Despoina Kalfakakou
+/+ 1 - c.676_679dupAACG r.(?) p.(Gly227Glufs*40) g.1220658_1220661dupAACG - STK11_000058 - - Germline ? - - N/A Despoina Kalfakakou
./. 1 - c.720G>A r.(=) p.(=) g.1220702G>A - STK11_000035 - - - - - - - Despoina Kalfakakou
+/+ 1 - c.734+1G>A r.spl? p.? g.1220717G>A - STK11_000060 - - Germline ? - - N/A Despoina Kalfakakou
./. 1 - c.734+17C>G r.(=) p.(=) g.1220733C>G - STK11_000018 - - - - - - - Despoina Kalfakakou
./. 1 - c.734+37A>G r.(=) p.(=) g.1220753A>G - STK11_000042 - - - - - - - Despoina Kalfakakou
./. 2 - c.787T>C r.(=) p.(=) g.1221264T>C - STK11_000023 - - - - - - - Despoina Kalfakakou
+/+ 2 - c.790_793del r.(?) p.(Phe264Argfs*22) g.1221267_1221270del - STK11_000056 - - Germline ? - - N/A Despoina Kalfakakou
./. 1 - c.795G>A r.(=) p.(=) g.1221272G>A - STK11_000045 - - - - - - - Despoina Kalfakakou
./. 1 - c.810G>A r.(=) p.(=) g.1221287G>A - STK11_000006 - - - - - - - Despoina Kalfakakou
./. 1 - c.811A>T r.(?) p.(Ser271Cys) g.1221288A>T - STK11_000007 - - - - - - - Despoina Kalfakakou
./. 1 - c.825G>A r.(=) p.(=) g.1221302G>A - STK11_000048 - - - - - - - Despoina Kalfakakou
./. 1 - c.841C>A r.(?) p.(Pro281Thr) g.1221318C>A - STK11_000030 - - - - - - - Despoina Kalfakakou
+/+ 3 - c.842del r.(?) p.(Pro281Argfs*6) g.1221319del - STK11_000052 - - Germline ? - - N/A Despoina Kalfakakou
+/+ 1 - c.842delC r.(?) p.(Pro281Argfs*6) g.1221319delC - STK11_000051 - - Germline ? - - N/A Despoina Kalfakakou
./. 1 - c.843G>A r.(=) p.(=) g.1221320G>A - STK11_000046 - - - - - - - Despoina Kalfakakou
./. 1 - c.862+16C>G r.(=) p.(=) g.1221355C>G - STK11_000029 - - - - - - - Despoina Kalfakakou
./. 1 - c.862+31C>T r.(=) p.(=) g.1221370C>T - STK11_000040 - - - - - - - Despoina Kalfakakou
./. 1 - c.875A>T r.(?) p.(Tyr292Phe) g.1221960A>T - STK11_000012 - - - - - - - Despoina Kalfakakou
./. 3 - c.876C>T r.(=) p.(=) g.1221961C>T - STK11_000003 - - - - - - - Despoina Kalfakakou
+/+ 1 - c.910C>T r.(?) p.(Arg304Trp) g.1221995C>T - STK11_000055 - - De novo ? - - N/A Despoina Kalfakakou
./. 2 - c.920+32G>A r.(=) p.(=) g.1222037G>A - STK11_000021 - - - - - - - Despoina Kalfakakou
./. 1 - c.992G>A r.(?) p.(Arg331Gln) g.1223055G>A - STK11_000039 - - - - - - - Despoina Kalfakakou
./. 1 - c.1012G>A r.(?) p.(Val338Met) g.1223075G>A - STK11_000061 - - - - - - - Despoina Kalfakakou
./. 1 - c.1068C>T r.(=) p.(=) g.1223131C>T - STK11_000066 - - - - - - - Despoina Kalfakakou
./. 1 - c.1087A>G r.(?) p.(Thr363Ala) g.1223150A>G - STK11_000019 - - - - - - - Despoina Kalfakakou
./. 1 - c.1108+3G>A r.spl? p.? g.1223174G>A - STK11_000033 - - - - - - - Despoina Kalfakakou
./. 1 - c.1108+36A>G r.(=) p.(=) g.1223207A>G - STK11_000013 - - - - - - - Despoina Kalfakakou
./. 1 - c.1109-14C>T r.(=) p.(=) g.1226439C>T - STK11_000065 - - - - - - - Despoina Kalfakakou
./. 1 - c.1109-11C>G r.(=) p.(=) g.1226442C>G - STK11_000047 - - - - - - - Despoina Kalfakakou
./. 3 - c.1185A>G r.(=) p.(=) g.1226529A>G - STK11_000001 - - - - - - - Despoina Kalfakakou
./. 1 - c.1190C>A r.(?) p.(Ala397Glu) g.1226534C>A - STK11_000026 - - - - - - - Despoina Kalfakakou
./. 2 - c.1194G>A r.(=) p.(=) g.1226538G>A - STK11_000027 - - - - - - - Despoina Kalfakakou
./. 1 - c.1211C>T r.(?) p.(Ser404Phe) g.1226555C>T - STK11_000034 - - - - - - - Despoina Kalfakakou
./., ?/? 3 - c.1225C>T r.(?) p.(Arg409Trp) g.1226569C>T - STK11_000014 - - Germline ? - - - Despoina Kalfakakou
./. 1 - c.1284G>A r.(=) p.(=) g.1226628G>A - STK11_000043 - - - - - - - Despoina Kalfakakou
./. 1 - c.1289G>A r.(?) p.(Cys430Tyr) g.1226633G>A - STK11_000064 - - - - - - - Despoina Kalfakakou
./. 11 - c.*8C>T r.(=) p.(=) g.1226654C>T - STK11_000002 - - - - - - - Despoina Kalfakakou
./. 1 - c.*16+8G>A r.(=) p.(=) g.1226670G>A - STK11_000044 - - - - - - - Despoina Kalfakakou
./. 1 - c.*16+13G>A r.(=) p.(=) g.1226675G>A - STK11_000022 - - - - - - - Despoina Kalfakakou
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