Full data view for 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     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

InSiGHT Class     

Splicing/transcript expression     

Allele     

DNA change (genomic) (hg19)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Date     

Template     

Technique     

Tissue     

Method     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Remarks     

Family History     

Pedigree information available     

Selection criteria for proband testing     

Panel size     

Owner     
?/. ? c.-1115-?_290+?del - r.spl? p.? - - Unknown g.1205798_1207202del - - STK11_000002 - submitted by ICCon (Australia, W.A.) Germline (inherited) - - - - - - - - - - - - - - - - -
?/. ? c.-1115-?_1302+?del - r.? p.? - - Unknown g.1205798_1226646del - - STK11_000001 - submitted by ICCon (Australia, W.A.) Germline (inherited) - - - - - - - - - - - - - - - - -
+/? 1 c.1-?_290+?del - r.(?) p.? - - Unknown g.1206913_1207202del - - STK11_000011 - ICCon data, Westmead, NSW Germline (inherited) - - - - - - - - - - - - - - - - -
+/. - c.129dup disruptive variant r.(?) p.(Lys44Glnfs*119) - - Unknown g.1207041dup - ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication chr19_000010 - - Germline (inherited) - - DNA ? - - PJS ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.157_158delinsT disruptive variant (mosaic) r.(?) p.(Asp53Serfs*11) - - Unknown g.1207069_1207070delinsT - ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication chr19_000011 - - Germline (inherited) - - DNA ? - - PJS ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication - France - - - - - 1 Stephanie Baert-Desurmont
+/? 1 c.157_158insCC - r.(?) p.(Asp53Alafs*12) - - Unknown g.1207069_1207070insCC - - chr19_000005 - ICCON data, Westmead, NSW Germline (inherited) - - - - - - - - - - - - - - - - -
?/. ? c.180C>A - r.(?) p.(Tyr60*) - - Unknown g.1207092C>A - - STK11_000003 - submitted by ICCon (Australia, W.A.) Germline (inherited) - - - - - - - - - - - - - - - - -
?/. ? c.212delC - r.(?) p.(Thr71Serfs*25) - - Unknown g.1207124delC - - STK11_000004 - submitted by ICCon (Australia, W.A.) Germline (inherited) - - - - - - - - - - - - - - - - -
+/? 2_3 c.291-?_464+?del - r.(?) p.(Glu98_Gly155del) - - Unknown g.1218416_1219412del - - STK11_000012 - ICCon data, Westmead, NSW Germline (inherited) - - - - - - - - - - - - - - - - -
+/? 2_9 c.291_1302del - r.? p.? - - Unknown g.1218416_1226646del - - chr19_000007 - ICCON data, Westmead, NSW Germline (inherited) - - - - - - - - - - - - - - - - -
?/. ? c.374+1A>G - r.spl? p.? - - Unknown g.1218500A>G - - STK11_000005 - submitted by ICCon (Australia, W.A.) Germline (inherited) - - - - - - - - - - - - - - - - -
?/. ? c.389_396delins32 - r.(?) p.Glu130_Cys132delIns11 - - Unknown g.1219337_1219344delins32 - - STK11_000010 - submitted by ICCon (Australia, W.A.) Germline (inherited) - - - - - - - - - - - - - - - - -
+/? 3 c.409C>T - r.(?) p.(Gln137*) - - Unknown g.1219357C>T - - STK11_000013 - ICCon data, Westmead, NSW Germline (inherited) - - - - - - - - - - - - - - - - -
+/. - c.432_433insTGTGCCG disruptive variant r.(?) p.(Glu145Cysfs*20) - - Unknown g.1219380_1219381insTGTGCCG - ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication chr19_000009 - - Germline (inherited) - - DNA ? - - PJS ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.454C>T disruptive variant (mosaic) r.(?) p.Gln152* - - Unknown g.1219402C>T - ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication chr19_000008 - - Germline (inherited) - - DNA ? - - PJS ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication - France - - - - - 1 Stephanie Baert-Desurmont
+/? 4 c.493G>T - r.(?) p.(Glu165*) - - Unknown g.1220400G>T - - STK11_000014 - ICCon data, Royal Prince Alfred/Liverpool, NSW Germline (inherited) - - - - - - - - - - - - - - - - -
?/. ? c.663_675del - r.(?) p.(Pro222Thrfs*61) - - Unknown g.1220645_1220657del13 - - STK11_000006 - submitted by ICCon (Australia, W.A.) Germline (inherited) - - - - - - - - - - - - - - - - -
+/? 5i c.734+1G>A - r.spl? p.? - - Unknown g.1220717G>A - - chr19_000001 - ICCON data, Royal Prince Alfred/Liverpool, NSW Germline (inherited) - - - - - - - - - - - - - - - - -
?/. ? c.863-?_1302+?del - r.? p.? - - Unknown g.1221948-?_1226646+?del - - STK11_000007 - submitted by ICCon (Australia, W.A.) Germline (inherited) - - - - - - - - - - - - - - - - -
?/. ? c.897_905del - r.(?) p.(Ile303_Gln305del) - - Unknown g.1221982_1221990del - - STK11_000008 - Original submission was c.897del9. Unclear if the submission means c.898_906del9 which is a deletion of a repeated sequence and is equivalent to c.907_915del9. Protein change is the same for either case. Submitted by ICCon (Australia, W.A.) Germline (inherited) - - - - - - - - - - - - - - - - -
?/. ? c.910del - r.(?) p.(Arg304Glyfs*32) - - Unknown g.1221995del - - STK11_000009 - submitted by ICCon (Australia, W.A.) Germline (inherited) - - - - - - - - - - - - - - - - -
+/? 8 c.977del - r.(?) p.(Pro326Glnfs*10) - - Unknown g.1223040del - - chr19_000003 - ICCON data, Royal Prince Alfred/Liverpool, NSW Germline (inherited) - - - - - - - - - - - - - - - - -
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