View transcript #00000036

Transcript name mutY homolog, transcript variant alpha5
Gene name MUTYH (mutY DNA glycosylase)
Chromosome 1
Transcript - NCBI ID NM_001128425.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001121897.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

41 entries on 1 page. Showing entries 1 - 41.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Reference     
-/-? 2 c.64G>A p.(Val22Met) Hetero no r.(?) -
?/? 3 c.251A>G p.(Tyr84Cys) Hetero no r.(?) -
?/? 3 c.290G>A p.(Arg97Gln) Hetero MUTYH r.(?) -
+/+ 7 c.536A>G p.(Tyr179Cys) Hetero N/A r.(?) -
+?/+ 7 c.536A>G p.(Tyr179Cys) Hetero N/A r.(?) -
+/+ 7 c.536A>G p.(Tyr179Cys) Hetero N/A r.(?) -
+/+ 9 c.721C>T p.(Arg241Trp) Hetero N/A r.(?) -
+/+ 10 c.799C>T p.(Gln267*) Hetero N/A r.(?) -
?/? 11 c.985G>A p.(Val329Met) Hetero no r.(?) -
-?/? 11i c.998-9C>T p.(=) Hetero MUTYH r.(=) -
+?/+ 11i c.998-1G>T p.? Hetero N/A r.spl? -
+/+ 12 c.1012C>T p.(Gln338*) Hetero N/A r.(?) -
+/+ 12 c.1012C>T p.(Gln338*) Hetero MUTYH r.(?) -
-/- 12 c.1014G>C p.(Gln338His) Hetero no r.(?) -
-/- 12 c.1014G>C p.(Gln338His) Hetero no r.(?) -
-/- 12 c.1014G>C p.(Gln338His) Homo APC r.(?) -
-/- 12 c.1014G>C p.(Gln338His) Homo APC r.(?) -
-/- 12 c.1014G>C p.(Gln338His) Hetero no r.(?) -
-/- 12 c.1014G>C p.(Gln338His) Hetero MLH1 r.(?) -
-/- 12 c.1014G>C p.(Gln338His) Hetero no r.(?) -
-/- 12 c.1014G>C p.(Gln338His) Homo no r.(?) -
-/- 12 c.1014G>C p.(Gln338His) Hetero MSH2 r.(?) -
-/- 12 c.1014G>C p.(Gln338His) Hetero no r.(?) -
-/- 12 c.1014G>C p.(Gln338His) Hetero no r.(?) -
+/+ 13 c.1187G>A p.(Gly396Asp) Hetero N/A r.(?) -
+/+ 13 c.1187G>A p.(Gly396Asp) Hetero N/A r.(?) -
+/+ 13 c.1187G>A p.(Gly396Asp) Hetero N/A r.(?) -
+/+ 13 c.1187G>A p.(Gly396Asp) Hetero N/A r.(?) -
+/+ 13 c.1187G>A p.(Gly396Asp) Hetero N/A r.(?) -
+/+ 13 c.1187G>A p.(Gly396Asp) Homo N/A r.(?) -
+/+ 13 c.1187G>A p.(Gly396Asp) Hetero N/A r.(?) -
+/+ 13 c.1187G>A p.(Gly396Asp) Hetero N/A r.(?) -
+/+ 13 c.1187G>A p.(Gly396Asp) Hetero MUTYH r.(?) -
+/+ 13 c.1187G>A p.(Gly396Asp) Hetero APC r.(?) -
+/+ 13 c.1187G>A p.(Gly396Asp) Hetero N/A r.(?) -
+/+ 13 c.1187G>A p.(Gly396Asp) Hetero N/A r.(?) -
+/+ 13 c.1187G>A p.(Gly396Asp) Hetero MUTYH r.(?) -
+/+ 13 c.1227_1228dup p.(Glu410Glyfs*43) Hetero MUTYH r.(?) -
?/? 13 c.1258C>G p.(Leu420Val) Hetero BRCA1 r.(?) -
-/-? 14 c.1431G>C p.(=) Hetero no r.(=) -
-/-? 16 c.1544C>T p.(Ser515Phe) Hetero MLH1 r.(?) -
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