All transcript variants in gene MSH6

Information The variants shown are described using the NM_000179.2 transcript reference sequence.

2297 entries on 23 pages. Showing entries 1 - 100.
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Effect     

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     
?/? 1i_2i c.(260+1_261-1)_(457+1_458-1)dup 265-?_457+?dup (duplication exon 2) r.? p.? Class 3 - g.(48010633_48018065)_(48018263_48023032)dup - Kets et al., 2006 MSH6_000454 - - Germline (inherited) - Michael Woods
?/? 1i_2i c.(260+1_261-1)_(457+1_458-1)dup - r.? p.? Class 3 - g.(48010633_48018065)_(48018263_48023032)dup - Overbeek et al., 2007 MSH6_000454 - - Germline (inherited) - Michael Woods
?/? 4i_6i c.(3172+1_3173-1)_(3556+1_3557-1)del Exon 5 to Exon 6 c.3173-?_3556+?del r.(?) p.(Asp1058_Ser1185del) - - g.(48028295_48030558)_(48032167_48032756)del - {microatt:1003329, Desiree du Sart} MSH6_000856 - - Germline (inherited) - InSiGHT group
+/+ 6i_10_ c.(3556+1_3557-1)_(*93_?)del - r.? p.? Class 5 - g.(48032167_48032756)_(48034092_?)del - - MSH6_000363 - - Germline (inherited) - Prof. Dr. med. Peter Propping
?/+ 2i_6i c.(457+1_458-1)_(3556+1_3557-1)del Exon 3 to Exon 6 c.458-?_3556+?del p.Ser154_Gln1186del r.(?) p.(Ser154_Gly1186del) Class 5 - g.(48018263_48023032)_(48032167_48032756)del - {microatt:1003099, Desiree du Sart} MSH6_000831 - - Germline (inherited) - InSiGHT group
?/+ 2i_3i c.(457+1_458-1)_(627+1_628-1)del - r.(?) p.(Ser154Argfs*8) Class 5 - g.(48018263_48023032)_(48023203_48025749)del - - MSH6_000336 - - Germline (inherited) - Carli Tops
?/? 2i_3i c.(457+1_458-1)_(627+1_628-1)del Exon 3 c.458-?_627+?del p.Ser154Argfs*8 r.(?) p.(Ser154Argfs*8) Class 5 - g.(48018263_48023032)_(48023203_48025749)del - {microatt:1003064, Desiree du Sart} MSH6_000336 - - Germline (inherited) - InSiGHT group
+/? _1_3i c.(?_-1)_(645+1_646-1)del c.1?_645+?del r.? p.0? - - g.? - - MSH6_000893 - Submitter has reported the nomenclature for deletion of MSH2 exon 1 to 3 not MSH6 Germline (inherited) - José Luis Soto
?/? _1_10_ c.(?_-152)_(*93_?)del del MSH2 ex1_16, delTACSTD1-15,-27, del MSH6 r.? p.? Class 5 - g.(?_48010221)_(48034092)del - - MSH6_000911 - - Germline (inherited) - Carli Tops
?/+ _1_10_ c.(?_-152)_(*93_?)del - r.? p.? Class 5 - g.(?_48010221)_(48034092)del - Nilbert et al., 2008 MSH6_000911 - deletion entire gene Germline (inherited) - Michael Woods
+?/+ _1_10_ c.(?_-152)_(*93_?)del - r.? p.? Class 5 - g.(?_48010221)_(48034092)del - - MSH6_000911 - - Germline (inherited) - Amanda Spurdle
?/+ _1_2i c.(?_-152)_(457+1_458-1)del c.1-?_475+?del r.? p.? Class 5 - g.(?_48010221)_(48018263_48023032)del - Kets et al., 2006 MSH6_000001 - deletion of exon 1-2 Germline (inherited) - Michael Woods
?/+ _1_2i c.(?_-152)_(457+1_458-1)del - r.? p.? Class 5 - g.(?_48010221)_(48018263_48023032)del - Overbeek et al., 2007 MSH6_000001 - - Germline (inherited) - Michael Woods
?/+ _1_2i c.(?_-152)_(457+1_458-1)del c.1-?_457+?del r.? p.? Class 5 - g.(?_48010221)_(48018263_48023032)del - {microatt:1002595, Carli Tops} MSH6_000001 - deletion of 21.6 kb around exon 1+2, in cis with c.2008G>A,p.Gly670Arg Germline (inherited) - InSiGHT group
?/+ _1_2i c.(?_-152)_(457+1_458-1)del MSH6:c.(?_-152)_457+?del breakpoint not tested r.? p.? Class 5 - g.(?_48010221)_(48018263_48023032)del - {microatt:1003589, Daniela Barana} MSH6_000001 - - Germline (inherited) - InSiGHT group
?/? 4 c.(?_904)_(1144_?)del - r.? p.? - - g.(?_48026026)_(48026266)del - Nicolaides et al., 1994 MSH6_000912 - somatic out-of-frame deletion that results in the deletion of codons 301-381 Somatic - Michael Woods
?/? 10 c.*185T>G insT in IVS7+4 r.? p.? - - g.48034184T>G - Chaksangchaichot et al., 2007 MSH6_000373 - - Somatic - Michael Woods
?/? 10 c.*24_*28del - r.(=) p.(=) Class 3 - g.48034023_48034027del - Thompson et al., 2013 MSH6_000787 - - Germline (inherited) - Mark Jenkins
?/? 10_ c.*4247G>A - r.? p.? Class 1 - g.48038246G>A - Schafmayer et al., 2007 MSH6_000374 - - Germline (inherited) - Michael Woods
?/? 10_ c.*4247G>A - r.? p.? Class 1 - g.48038246G>A - {dbSNP6713506 MSH6_000374 - - Germline (inherited) - Michael Woods
?/? 10_ c.*5045T>C - r.? p.? Class 1 - g.48039044T>C - Schafmayer et al., 2007 MSH6_000375 - - Germline (inherited) - Michael Woods
?/? 10_ c.*5045T>C - r.? p.? Class 1 - g.48039044T>C - {dbSNP2537742 MSH6_000375 - - Germline (inherited) - Michael Woods
?/? 10 c.*77_*78dup *77_78dupTT r.(=) p.(=) Class 3 - g.48034076_48034077dup - - MSH6_000741 - - Germline (inherited) - Ans van den Ouweland
-/? 10 c.*85T>A - r.(=) p.(=) Class 3 - g.48034084T>A - Perez-Cabornero et al., 2009 MSH6_000695 - - Germline (inherited) - Michael Woods
?/? 10 c.*85T>A c.*85T>A r.(=) p.(=) Class 3 - g.48034084T>A - {microatt:1000376, Steve Gallinger} MSH6_000695 - - Germline (inherited) - InSiGHT group
?/? 10 c.*85T>A c.*85T>A r.(=) p.(=) Class 3 - g.48034084T>A - {microatt:1000580, Steve Gallinger} MSH6_000695 - - Germline (inherited) - InSiGHT group
+/+ 1_2i c.-11863_457+1921del - r.? p.? Class 5 - g.47998510_48020183del - van der Klift et al., 2005 MSH6_000002 - 21.6 Kb deletion exon 1-2 Germline (inherited) - Carli Tops
?/+ 1 c.-13022_-1711del - r.? p.? Class 3 - g.47997351_48008662del - van der Klift et al., 2005 MSH6_000012 - - Germline (inherited) - Carli Tops
?/? 1 c.-159C>T - r.(=) p.(=) Class 1 - g.48010214C>T - Mrkonjic et al., 2007 MSH6_000401 - - Germline (inherited) - Michael Woods
?/? 1 c.-159C>T - r.(=) p.(=) Class 1 - g.48010214C>T - Mrkonjic et al., 2007 MSH6_000401 - - Germline (inherited) - Michael Woods
?/? 1 c.-159C>T - r.(=) p.(=) Class 1 - g.48010214C>T - Peterlongo et al., 2003 MSH6_000401 - - Germline (inherited) - Michael Woods
?/? 1 c.-159C>T - r.(=) p.(=) Class 1 - g.48010214C>T - Mrkonjic et al., 2007 MSH6_000401 - - Germline (inherited) - Michael Woods
?/? 1 c.-18G>T - r.(=) p.(=) Class 3 - g.48010355G>T - - MSH6_000006 - - Germline (inherited) - Carli Tops
?/? 1 c.-18G>T - r.(=) p.(=) Class 3 - g.48010355G>T - Lamberti et al., 2006 MSH6_000006 - - Germline (inherited) - Michael Woods
?/? 1 c.-210C>T - r.(=) p.(=) Class 1 - g.48010163C>T - Gazzoli et al., 2003 MSH6_000429 - Functional studies indicate Inactivation of splice1 site Germline (inherited) - Michael Woods
?/? 1_2i c.-3097_457+2010del - r.? p.? Class 5 - g.48007276_48020272del - Plaschke et al., 2003 MSH6_000003 - 13.0 Kb deletion promoter to exon 2 Germline (inherited) - Michael Woods
?/? 1_2i c.-3097_457+2010del - r.? p.? Class 5 - g.48007276_48020272del - Plaschke et al., 2004 MSH6_000003 - 13.0 Kb deletion promoter to exon 2 Germline (inherited) - Michael Woods
?/? 1 c.-448G>A - r.(=) p.(=) Class 1 - g.48009925G>A - Gazzoli et al., 2003 MSH6_000591 - Functional studies indicate Inactivation of two splice1 sites; Authors describe this as a polymorphism Germline (inherited) - Michael Woods
?/? 1 c.-557T>G -556G>T (rs3136228) r.(=) p.(=) Class 1 - g.48009816T>G - Tulupova et al., 2008 MSH6_000597 - - Germline (inherited) - Michael Woods
?/? 1 c.-557T>G -556G>T (rs3136228) r.(=) p.(=) Class 1 - g.48009816T>G - Tulupova et al., 2008 MSH6_000597 - - Germline (inherited) - Michael Woods
?/? 1 c.-557T>G -556G>T r.(=) p.(=) Class 1 - g.48009816T>G - Gazzoli et al., 2003 MSH6_000597 - - Germline (inherited) - Michael Woods
?/? 1 c.-557T>G -556G>T (rs3136228) r.(=) p.(=) Class 1 - g.48009816T>G - Tulupova et al., 2008 MSH6_000597 - - Germline (inherited) - Michael Woods
?/? 1 c.-557T>G - r.(=) p.(=) Class 1 - g.48009816T>G - {dbSNP3136228 MSH6_000597 - - Germline (inherited) - Michael Woods
?/-? 1 c.-88G>A - r.(=) p.(=) Class 2 - g.48010285G>A - - MSH6_000792 - - Germline (inherited) - Hanno Roomere
?/? 1 c.-8C>T - r.(=) p.(=) Class 3 - g.48010365C>T - - MSH6_000770 - - Germline (inherited) - Bert Redeker
+/? 4 c.1019T>C T>C at 1019 r.1019u>c p.Phe340Ser Class 2 - g.48026141T>C - Plaschke et al., 2000 MSH6_000139 - - Germline (inherited) - InSiGHT group
?/? 4 c.1019T>C p.Phe340Ser r.1019u>c p.Phe340Ser Class 2 - g.48026141T>C - Thompson et al., 2013 MSH6_000139 - - Germline (inherited) - Mark Jenkins
?/? 4 c.1044C>A - r.(=) p.(=) Class 3 - g.48026166C>A - - MSH6_000317 - - Germline (inherited) - Carli Tops
?/? 4 c.1063G>A - r.(?) p.(Gly355Ser) - - g.48026185G>A - - MSH6_000900 - Noted MAPP/PP2.1 prior 0.0029, truncated to 0.10 Unknown - Ian Frayling
?/? 4 c.1079G>T - r.(?) p.(Ser360Ile) Class 3 - g.48026201G>T - - MSH6_000354 - - Germline (inherited) - Prof. Dr. med. Peter Propping
?/? 4 c.1079G>T - r.(?) p.(Ser360Ile) Class 3 - g.48026201G>T - Steinke et al., 2008 MSH6_000354 - - Germline (inherited) - Michael Woods
?/? 4 c.1082G>A - r.(?) p.(Arg361His) Class 3 - g.48026204G>A - Koehler et al., 2007 MSH6_000377 - - Germline (inherited) - Michael Woods
?/? 4 c.1082G>A - r.(?) p.(Arg361His) Class 3 - g.48026204G>A - - MSH6_000377 - - Germline (inherited) - Johan JP Gille
+/+ 4 c.1085del - r.(?) p.(Pro362Leufs*9) Class 5 - g.48026207del - Nilbert et al., 2008 MSH6_000378 - - Germline (inherited) - Michael Woods
?/? 1 c.108T>G T->G at 108 r.(=) p.(=) Class 3 - g.48010480T>G - Nicolaides et al., 1996 MSH6_000009 - - Germline (inherited) - InSiGHT group
?/? - c.1094ˆ1095G>A p.Trp365X r.(?) p.(Trp365*) - - g.48026216ˆ48026217G>A - Maxwell et al., 2008 MSH6_000934 - identified in a glioblastoma multiforme tumour sample Somatic - Michael Woods
?/+ 4 c.1100A>G Exon 4 c.1100A>G p.His367Arg UCV r.(?) p.(His367Arg) Class 5 - g.48026222A>G - {microatt:1003183, Desiree du Sart} MSH6_000839 - - Germline (inherited) - InSiGHT group
+/+ 4 c.1101del Submitter described this as p.His367fs370X. r.(?) p.(His367Glnfs*4) Class 5 - g.48026223del - - MSH6_000632 - - Germline (inherited) - Elke Holinski-Feder
+/+ 4 c.1101del Submitter described this as c.1188delT, p.367Hisfs370X. r.(?) p.(His367Glnfs*4) Class 5 - g.48026223del - - MSH6_000632 - - Germline (inherited) - Elke Holinski-Feder
?/? 4 c.1109T>C - r.(?) p.(Leu370Ser) Class 3 - g.48026231T>C - - MSH6_000742 - - Germline (inherited) - Rolf Sijmons
?/? 4 c.1109T>C c.1109T>C r.(?) p.(Leu370Ser) Class 3 - g.48026231T>C - {microatt:1000581, Noralane Lindor and Steve Thibodeau} MSH6_000742 - - Germline (inherited) - InSiGHT group
?/? 4 c.1120_1122del Exon 4 c.1120_1122delAAG p.Lys374del UCV r.(?) p.(Lys374del) - - g.48026242_48026244del - {microatt:1003050, Desiree du Sart} MSH6_000825 - - Germline (inherited) - InSiGHT group
?/? 4 c.1133G>A - r.(?) p.(Arg378Lys) Class 3 - g.48026255G>A - Hendriks et al., 2004 MSH6_000318 - - Germline (inherited) - Carli Tops
?/? 4 c.1133G>A - r.(?) p.(Arg378Lys) Class 3 - g.48026255G>A - - MSH6_000318 - - Germline (inherited) - Carli Tops
?/? 4 c.1133G>A - r.(?) p.(Arg378Lys) Class 3 - g.48026255G>A - - MSH6_000318 - - Germline (inherited) - Carli Tops
?/+ 4 c.1135_1139del - r.(?) p.(Arg379*) Class 5 - g.48026257_48026261del - Kets et al., 2006 MSH6_000379 - - Germline (inherited) - Michael Woods
?/+ 4 c.1135_1139del - r.(?) p.(Arg379*) Class 5 - g.48026257_48026261del - Overbeek et al., 2007 MSH6_000379 - - Germline (inherited) - Michael Woods
?/+ 4 c.1139_1143del - r.(?) p.(Asp380Alafs*6) Class 5 - g.48026261_48026265del - - MSH6_000319 - - Germline (inherited) - Carli Tops
?/? 4 c.1139_1143del Exon 4 c.1139_1143delATGAG p.Asp380Alafs*6 r.(?) p.(Asp380Alafs*6) Class 5 - g.48026261_48026265del - {microatt:1003135, Desiree du Sart} MSH6_000319 - - Germline (inherited) - InSiGHT group
?/? 4 c.1139_1143del Exon 4, c.1139_1143delATGAG p.Asp380Alafs*6 r.(?) p.(Asp380Alafs*6) Class 5 - g.48026261_48026265del - {microatt:1003284, Desiree du Sart} MSH6_000319 - - Germline (inherited) - InSiGHT group
?/? 4 c.1139_1143del c.1139_1143delATGAG r.(?) p.(Asp380Alafs*6) Class 5 - g.48026261_48026265del - {microatt:1003547, Carli Tops} MSH6_000319 - - Germline (inherited) - InSiGHT group
?/? 4 c.1139_1143del c.1139_1143delATGAG r.(?) p.(Asp380Alafs*6) Class 5 - g.48026261_48026265del - {microatt:1003548, Carli Tops} MSH6_000319 - - Germline (inherited) - InSiGHT group
?/? 4 c.1139_1143del c.1139_1143delATGAG r.(?) p.(Asp380Alafs*6) Class 5 - g.48026261_48026265del - {microatt:1003549, Carli Tops} MSH6_000319 - - Germline (inherited) - InSiGHT group
?/? 4 c.1139_1143del c.1139_1143delATGAG r.(?) p.(Asp380Alafs*6) Class 5 - g.48026261_48026265del - {microatt:1003550, Carli Tops} MSH6_000319 - - Germline (inherited) - InSiGHT group
?/? 4 c.1144C>T - r.(?) p.(His382Tyr) Class 3 - g.48026266C>T - - MSH6_000355 - - Germline (inherited) - Prof. Dr. med. Peter Propping
?/? 4 c.1153_1155del - r.(?) p.(Arg385del) Class 3 - g.48026275_48026277del - Roncari et al., 2007 MSH6_000380 - - Germline (inherited) - Michael Woods
?/? 4 c.1153_1155del - r.(?) p.(Arg385del) Class 3 - g.48026275_48026277del - - MSH6_000380 - - Germline (inherited) - Ans van den Ouweland
?/? 4 c.1164C>T C>T at 1164 r.(=) p.(=) Class 1 - g.48026286C>T - Kolodner et al., 1999 MSH6_000110 - - Germline (inherited) - InSiGHT group
?/? 4 c.1164C>T - r.(=) p.(=) Class 1 - g.48026286C>T - Sanchez de Abajo et al., 2005 MSH6_000110 - - Germline (inherited) - Michael Woods
-/? 4 c.1164C>T - r.(=) p.(=) Class 1 - g.48026286C>T - Perez-Cabornero et al., 2009 MSH6_000110 - - Germline (inherited) - Michael Woods
?/? 4 c.1164C>T - r.(=) p.(=) Class 1 - g.48026286C>T - Thompson et al., 2013 MSH6_000110 - - Germline (inherited) - Mark Jenkins
?/? 1 c.116G>A p.Gly39Glu r.(?) p.(Gly39Glu) Class 1 - g.48010488G>A - Zidan et al., 2007 MSH6_000915 - - Germline (inherited) - Michael Woods
?/? 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 - g.48010488G>A - Hirata et al., 2008 MSH6_000915 - - Germline (inherited) - Michael Woods
?/? 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 - g.48010488G>A - Hirata et al., 2008 MSH6_000915 - - Germline (inherited) - Michael Woods
?/? 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 - g.48010488G>A - Smith et al., 2008 MSH6_000915 - no significant association with breast cancer risk Germline (inherited) - Michael Woods
?/? 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 - g.48010488G>A - Smith et al., 2008 MSH6_000915 - no significant association with breast cancer risk Germline (inherited) - Michael Woods
-/? 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 - g.48010488G>A - - MSH6_000915 - - Germline (inherited) - Prof. Dr. med. Peter Propping
-/? 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 - g.48010488G>A - - MSH6_000915 - - Germline (inherited) - Prof. Dr. med. Peter Propping
-/? 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 - g.48010488G>A - - MSH6_000915 - - Germline (inherited) - Prof. Dr. med. Peter Propping
-/? 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 - g.48010488G>A - - MSH6_000915 - - Germline (inherited) - Prof. Dr. med. Peter Propping
-/? 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 - g.48010488G>A - - MSH6_000915 - - Germline (inherited) - Prof. Dr. med. Peter Propping
?/? 1 c.116G>A G>A at 116 r.(?) p.(Gly39Glu) Class 1 - g.48010488G>A - Kolodner et al., 1999 MSH6_000915 - - Germline (inherited) - InSiGHT group
?/? 1 c.116G>A G>A at 116 r.(?) p.(Gly39Glu) Class 1 - g.48010488G>A - Plaschke et al., 2000 MSH6_000915 - - Germline (inherited) - InSiGHT group
?/? 1 c.116G>A G>A at 116 r.(?) p.(Gly39Glu) Class 1 - g.48010488G>A - Nicolaides et al., 1996 MSH6_000915 - - Germline (inherited) - InSiGHT group
?/? 1 c.116G>A p.Gly39Glu r.(?) p.(Gly39Glu) Class 1 - g.48010488G>A - Landi et al., 2006 MSH6_000915 - - Germline (inherited) - Michael Woods
?/? 1 c.116G>A p.Gly39Glu r.(?) p.(Gly39Glu) Class 1 - g.48010488G>A - Berndt et al., 2007 MSH6_000915 - - Germline (inherited) - Michael Woods
?/? 1 c.116G>A p.Gly39Glu r.(?) p.(Gly39Glu) Class 1 - g.48010488G>A - Sanyal et al., 2007 MSH6_000915 - polymorphism showing higher risk for malignant urinary bladder neoplasms than non-carriers Germline (inherited) - Michael Woods
?/? 1 c.116G>A p.Gly39Glu r.(?) p.(Gly39Glu) Class 1 - g.48010488G>A - Maxwell et al., 2008 MSH6_000915 - identified in a glioblastoma multiforme tumour sample Somatic - Michael Woods
?/? 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 - g.48010488G>A - Verma et al., 1999 MSH6_000915 - - Germline (inherited) - Michael Woods
?/? 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 - g.48010488G>A - Charames et al., 2000 MSH6_000915 - - Germline (inherited) - Michael Woods
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