Unique variants in gene STK11

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

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

InSiGHT Class     

Splicing/transcript expression     

DNA change (genomic) (hg19)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Owner     
?/. 1 ? c.-1115-?_290+?del - r.spl? p.? - - g.1205798_1207202del - - STK11_000002 - submitted by ICCon (Australia, W.A.) Germline (inherited) - John Paul Plazzer
?/. 1 ? c.-1115-?_1302+?del - r.? p.? - - g.1205798_1226646del - - STK11_000001 - submitted by ICCon (Australia, W.A.) Germline (inherited) - John Paul Plazzer
+/? 1 1 c.1-?_290+?del - r.(?) p.? - - g.1206913_1207202del - - STK11_000011 - ICCon data, Westmead, NSW Germline (inherited) - John Paul Plazzer
+/. 1 - c.129dup disruptive variant r.(?) p.(Lys44Glnfs*119) - - g.1207041dup - 1 more item chr19_000010 - - Germline (inherited) - Stephanie Baert-Desurmont
+/. 1 - c.157_158delinsT disruptive variant (mosaic) r.(?) p.(Asp53Serfs*11) - - g.1207069_1207070delinsT - 1 more item chr19_000011 - - Germline (inherited) - Stephanie Baert-Desurmont
+/? 1 1 c.157_158insCC - r.(?) p.(Asp53Alafs*12) - - g.1207069_1207070insCC - - chr19_000005 - ICCON data, Westmead, NSW Germline (inherited) - John Paul Plazzer
?/. 1 ? c.180C>A - r.(?) p.(Tyr60*) - - g.1207092C>A - - STK11_000003 - submitted by ICCon (Australia, W.A.) Germline (inherited) - John Paul Plazzer
?/. 1 ? c.212delC - r.(?) p.(Thr71Serfs*25) - - g.1207124delC - - STK11_000004 - submitted by ICCon (Australia, W.A.) Germline (inherited) - John Paul Plazzer
+/? 1 2_3 c.291-?_464+?del - r.(?) p.(Glu98_Gly155del) - - g.1218416_1219412del - - STK11_000012 - ICCon data, Westmead, NSW Germline (inherited) - John Paul Plazzer
+/? 1 2_9 c.291_1302del - r.? p.? - - g.1218416_1226646del - - chr19_000007 - ICCON data, Westmead, NSW Germline (inherited) - John Paul Plazzer
?/. 1 ? c.374+1A>G - r.spl? p.? - - g.1218500A>G - - STK11_000005 - submitted by ICCon (Australia, W.A.) Germline (inherited) - John Paul Plazzer
?/. 1 ? c.389_396delins32 - r.(?) p.Glu130_Cys132delIns11 - - g.1219337_1219344delins32 - - STK11_000010 - submitted by ICCon (Australia, W.A.) Germline (inherited) - John Paul Plazzer
+/? 1 3 c.409C>T - r.(?) p.(Gln137*) - - g.1219357C>T - - STK11_000013 - ICCon data, Westmead, NSW Germline (inherited) - John Paul Plazzer
+/. 1 - c.432_433insTGTGCCG disruptive variant r.(?) p.(Glu145Cysfs*20) - - g.1219380_1219381insTGTGCCG - 1 more item chr19_000009 - - Germline (inherited) - Stephanie Baert-Desurmont
+/. 1 - c.454C>T disruptive variant (mosaic) r.(?) p.Gln152* - - g.1219402C>T - 1 more item chr19_000008 - - Germline (inherited) - Stephanie Baert-Desurmont
+/? 1 4 c.493G>T - r.(?) p.(Glu165*) - - g.1220400G>T - - STK11_000014 - ICCon data, Royal Prince Alfred/Liverpool, NSW Germline (inherited) - John Paul Plazzer
?/. 1 ? c.663_675del - r.(?) p.(Pro222Thrfs*61) - - g.1220645_1220657del13 - - STK11_000006 - submitted by ICCon (Australia, W.A.) Germline (inherited) - John Paul Plazzer
+/? 1 5i c.734+1G>A - r.spl? p.? - - g.1220717G>A - - chr19_000001 - ICCON data, Royal Prince Alfred/Liverpool, NSW Germline (inherited) - John Paul Plazzer
?/. 1 ? c.863-?_1302+?del - r.? p.? - - g.1221948-?_1226646+?del - - STK11_000007 - submitted by ICCon (Australia, W.A.) Germline (inherited) - John Paul Plazzer
?/. 1 ? c.897_905del - r.(?) p.(Ile303_Gln305del) - - g.1221982_1221990del - - STK11_000008 - 1 more item Germline (inherited) - John Paul Plazzer
?/. 1 ? c.910del - r.(?) p.(Arg304Glyfs*32) - - g.1221995del - - STK11_000009 - submitted by ICCon (Australia, W.A.) Germline (inherited) - John Paul Plazzer
+/? 1 8 c.977del - r.(?) p.(Pro326Glnfs*10) - - g.1223040del - - chr19_000003 - ICCON data, Royal Prince Alfred/Liverpool, NSW Germline (inherited) - John Paul Plazzer
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