View transcript #00000003

Transcript name mutS homolog 6 (E. coli), transcript variant 1
Gene name MSH6 (mutS homolog 6)
Chromosome 2
Transcript - NCBI ID NM_000179.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000170.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

2088 entries on 21 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

InSiGHT Class     

Splicing/transcript expression     
?/? 1_10 c.(?_-152)_(*93_?)del del MSH2 ex1_16, delTACSTD1-15,-27, del MSH6 r.(?) p.? Class 5 -
?/+ 1_10 c.(?_-152)_(*93_?)del - r.(?) p.? Class 5 -
+?/+ 1_10 c.(?_-152)_(*93_?)del - r.(?) p.? Class 5 -
?/+ 1_2 c.(?_-152)_457+?del c.1-?_475+?del r.(?) p.? Class 5 -
?/+ 1_2 c.(?_-152)_457+?del - r.(?) p.? Class 5 -
?/+ 1_2 c.(?_-152)_457+?del c.1-?_457+?del r.(?) p.? Class 5 -
?/+ 1_2 c.(?_-152)_457+?del MSH6:c.(?_-152)_457+?del breakpoint not tested r.(?) p.? Class 5 -
?/? 3'UTR c.*185T>G insT in IVS7+4 r.(?) p.(=) - -
?/? 3'UTR c.*24_*28del - r.(=) p.(=) Class 3 -
?/? 3'UTR c.*4247G>A - r.(=) p.(=) Class 1 -
?/? 3'UTR c.*4247G>A - r.(=) p.(=) Class 1 -
?/? 3'UTR c.*5045T>C - r.(=) p.(=) Class 1 -
?/? 3'UTR c.*5045T>C - r.(=) p.(=) Class 1 -
?/? 3'UTR c.*77_*78dup *77_78dupTT r.(?) p.(=) Class 3 -
-/? 3'UTR c.*85T>A - r.(?) p.(=) Class 3 -
?/? 3'UTR c.*85T>A c.*85T>A r.(?) p.(=) Class 3 -
?/? 3'UTR c.*85T>A c.*85T>A r.(?) p.(=) Class 3 -
+/+ 1_2 c.-11863_457+1921del - r.(?) p.? Class 5 -
?/+ 5'UTR c.-13022_-1711del - r.(?) p.? Class 3 -
?/? 5'UTR c.-159C>T - r.(=) p.(=) Class 1 -
?/? 5'UTR c.-159C>T - r.(=) p.(=) Class 1 -
?/? 5'UTR c.-159C>T - r.(=) p.(=) Class 1 -
?/? 5'UTR c.-159C>T - r.(=) p.(=) Class 1 -
?/? 5'UTR c.-18G>T - r.(?) p.(=) Class 3 -
?/? 5'UTR c.-18G>T - r.(?) p.(=) Class 3 -
?/? 5'UTR c.-210C>T - r.(=) p.(=) Class 1 -
?/? 1_2 c.-3097_457+2010del - r.? p.? Class 5 -
?/? 1_2 c.-3097_457+2010del - r.? p.? Class 5 -
?/? 5'UTR c.-448G>A - r.(=) p.(=) Class 1 -
?/? 5'UTR c.-557T>G -556G>T (rs3136228) r.(=) p.(=) Class 1 -
?/? 5'UTR c.-557T>G -556G>T (rs3136228) r.(=) p.(=) Class 1 -
?/? 5'UTR c.-557T>G -556G>T r.(=) p.(=) Class 1 -
?/? 5'UTR c.-557T>G -556G>T (rs3136228) r.(=) p.(=) Class 1 -
?/? 5'UTR c.-557T>G - r.(=) p.(=) Class 1 -
?/-? 5'UTR c.-88G>A - r.(?) p.(=) Class 2 -
?/? 5'UTR c.-8C>T - r.(?) p.(=) Class 3 -
+/? 4 c.1019T>C T>C at 1019 r.1019u>c p.Phe340Ser Class 2 -
?/? 4 c.1019T>C p.Phe340Ser r.1019u>c p.Phe340Ser Class 2 -
?/? 4 c.1044C>A - r.(?) p.(=) Class 3 -
?/? 4 c.1063G>A - r.(?) p.(Gly355Ser) - -
?/? 4 c.1079G>T - r.(?) p.(Ser360Ile) Class 3 -
?/? 4 c.1079G>T - r.(?) p.(Ser360Ile) Class 3 -
?/? 4 c.1082G>A - r.(?) p.(Arg361His) Class 3 -
?/? 4 c.1082G>A - r.(?) p.(Arg361His) Class 3 -
+/+ 4 c.1085del - r.(?) p.(Pro362Leufs*9) Class 5 -
?/? 1 c.108T>G T->G at 108 r.(?) p.(=) Class 3 -
?/? 4 c.1100A>G Exon 4 c.1100A>G p.His367Arg UCV r.(?) p.(His367Arg) - -
+/+ 4 c.1101del Submitter described this as p.His367fs370X. r.(?) p.(His367Glnfs*4) Class 5 -
+/+ 4 c.1101del Submitter described this as c.1188delT, p.367Hisfs370X. r.(?) p.(His367Glnfs*4) Class 5 -
?/? 4 c.1109T>C - r.(?) p.(Leu370Ser) Class 3 -
?/? 4 c.1109T>C c.1109T>C r.(?) p.(Leu370Ser) Class 3 -
?/? 4 c.1120_1122del Exon 4 c.1120_1122delAAG p.Lys374del UCV r.(?) p.(Lys374del) - -
?/? 4 c.1133G>A - r.(?) p.(Arg378Lys) Class 3 -
?/? 4 c.1133G>A - r.(?) p.(Arg378Lys) Class 3 -
?/? 4 c.1133G>A - r.(?) p.(Arg378Lys) Class 3 -
?/+ 4 c.1135_1139del - r.(?) p.(Arg379*) Class 5 -
?/+ 4 c.1135_1139del - r.(?) p.(Arg379*) Class 5 -
?/+ 4 c.1139_1143del - r.? p.Asp380Alafs*6 Class 5 -
?/? ? c.1139_1143del Exon 4 c.1139_1143delATGAG p.Asp380Alafs*6 r.(?) p.(?) Class 5 -
?/? ? c.1139_1143del Exon 4, c.1139_1143delATGAG p.Asp380Alafs*6 r.(?) p.(?) Class 5 -
?/? ? c.1139_1143del c.1139_1143delATGAG r.(?) p.Asp380AlafsX6 Class 5 -
?/? ? c.1139_1143del c.1139_1143delATGAG r.(?) p.Asp380AlafsX6 Class 5 -
?/? ? c.1139_1143del c.1139_1143delATGAG r.(?) p.Asp380AlafsX6 Class 5 -
?/? ? c.1139_1143del c.1139_1143delATGAG r.(?) p.Asp380AlafsX6 Class 5 -
?/? 4 c.1144C>T - r.(?) p.(His382Tyr) Class 3 -
?/? 4 c.1153_1155del - r.(?) p.(Arg385del) Class 3 -
?/? 4 c.1153_1155del - r.(?) p.(Arg385del) Class 3 -
?/? 4 c.1164C>T C>T at 1164 r.(=) p.(=) Class 1 -
?/? 4 c.1164C>T - r.(=) p.(=) Class 1 -
-/? 4 c.1164C>T - r.(=) p.(=) Class 1 -
?/? 4 c.1164C>T - r.(=) p.(=) Class 1 -
?/? 1 c.116G>A - r.(=) p.(Gly39Glu) Class 1 -
?/? 1 c.116G>A - r.(=) p.(Gly39Glu) Class 1 -
?/? 1 c.116G>A - r.(=) p.(Gly39Glu) Class 1 -
?/? 1 c.116G>A - r.(=) p.(Gly39Glu) Class 1 -
-/? 1 c.116G>A - r.(=) p.(Gly39Glu) Class 1 -
?/? 1 c.116G>A - r.(=) p.(Gly39Glu) Class 1 -
?/? 1 c.116G>A - r.(=) p.(Gly39Glu) Class 1 -
?/? 1 c.116G>A - r.(=) p.(Gly39Glu) Class 1 -
?/? 1 c.116G>A - r.(=) p.(Gly39Glu) Class 1 -
?/? 1 c.116G>A - r.(=) p.(Gly39Glu) Class 1 -
?/? 1 c.116G>A c.116G>A r.(?) p.Glu39Gln, p.= Class 1 -
?/? 1 c.116G>A c.116G>A r.(?) p.Glu39Gln, p.= Class 1 -
?/? 1 c.116G>A c.116G>A r.(?) p.Glu39Gln, p.=, p.= Class 1 -
?/- 1 c.116G>A - r.(?) p.(Gly39Glu) Class 1 -
?/? 1 c.116G>A Het c.116G>A (p.G39E). r.(?) p.(?) Class 1 -
?/? 1 c.116G>A c.116G>A r.(?) p.(?) Class 1 -
?/- 1 c.116G>A c.3150_3162dup hetero; c.116G>A hetero; c.2633T>C hetero r.(?) p.Gly39Glu Class 1 -
?/? ? c.116G>A MSH2 seq reported 23/01/09. mlpa reported 23/01/09.Hom:c.211+9C>G, c.1661+12G>A, het c.2006-6T>CMSH6 polys:c.116G>A, c.3306T>A r.(?) p.(?) - -
?/? ? c.116G>A Dx bowel ca 40yrs, IHC absent MSH6. Austin clinicHet for seq variants: 116G>A, 186C>A, 276A>G, 540T>C, 3438+14A>T. r.(?) p.(?) - -
?/? 1 c.116G>A p.Gly39Glu r.(=) p.(Gly39Glu) Class 1 -
?/? 1 c.116G>A - r.(=) p.(Gly39Glu) Class 1 -
?/? 1 c.116G>A - r.(=) p.(Gly39Glu) Class 1 -
?/? 1 c.116G>A - r.(=) p.(Gly39Glu) Class 1 -
?/? 1 c.116G>A - r.(=) p.(Gly39Glu) Class 1 -
-/? 1 c.116G>A - r.(=) p.(Gly39Glu) Class 1 -
-/? 1 c.116G>A - r.(=) p.(Gly39Glu) Class 1 -
-/? 1 c.116G>A - r.(=) p.(Gly39Glu) Class 1 -
-/? 1 c.116G>A - r.(=) p.(Gly39Glu) Class 1 -
-/? 1 c.116G>A - r.(=) p.(Gly39Glu) Class 1 -
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