Transcript #00024200 (NM_000156.5, GAMT gene)

Transcript name transcript variant 1
Gene name GAMT (guanidinoacetate N-methyltransferase)
Chromosome 19
Transcript - NCBI ID NM_000156.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_000147.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

316 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/+ 1 c.11_36dup r.(?) p.(Gly13Profs*38)
+/+ 1 c.11_36dup r.(?) p.(Gly13Profs*38)
+/+ 1 c.11_36dup r.(?) p.(Gly13Profs*38)
+/+ 1 c.11_36dup r.(?) p.(Gly13Profs*38)
+/+ 1 c.11_36dup r.(?) p.(Gly13Profs*38)
-/- 1 c.22C>A r.(?) p.Pro8Thr
-/- 1 c.22C>A r.(?) p.(Pro8Thr)
-?/. - c.48C>T r.(?) p.(Cys16=)
-?/. - c.54C>T r.(?) p.(Pro18=)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.59G>C r.(?) p.(Trp20Ser)
+/+ 1 c.64dup r.(?) p.(Ala22Glyfs*63)
+/+ 1 c.64dup r.(?) p.(Ala22Glyfs*63)
+/+ 1 c.64dup r.(?) p.(Ala22Glyfs*63)
+/+ 1 c.64dup r.(?) p.(Ala22Glyfs*63)
+/+ 1 c.64dup r.(?) p.(Ala22Glyfs*63)
+/+ 1 c.64dup r.(?) p.(Ala22Glyfs*63)
-?/. - c.79T>C r.(?) p.(Tyr27His)
-?/. - c.79T>C r.(?) p.(Tyr27His)
-/- 1 c.79T>C r.(?) p.(Tyr27His)
-/- 1 c.79T>C r.(?) p.(Tyr27His)
-/- 1 c.79T>C r.(?) p.Tyr27His
?/. - c.82G>C r.(?) p.(Asp28His)
?/. - c.122T>A r.(?) p.(Val41Glu)
+/+ 1 c.133T>A r.(?) p.(Trp45Arg)
+/+ 1 c.133T>A r.(?) p.(Trp45Arg)
+/+ 1 c.133T>A r.(?) p.(Trp45Arg)
+/+ 1 c.133T>A r.(?) p.(Trp45Arg)
+/. - c.133T>A r.(?) p.(Trp45Arg)
+/+ 1 c.133T>A r.(?) p.Trp45Arg
+/+ 1 c.133T>A r.(?) p.(Trp45Arg)
?/. - c.133T>A r.(?) p.(Trp45Arg)
+/+ 1 c.145del r.(?) p.(Tyr49Ilefs*65)
+/+ 1 c.145del r.(?) p.(Tyr49Ilefs*65)
+/+ 1 c.148A>C r.(?) p.(Met50Leu)
+/+ 1 c.148A>C r.(?) p.(Met50Leu)
+/+ 1 c.148A>C r.(?) p.Met50Leu
+/+ 1 c.148A>C r.(?) p.(Met50Leu)
+/+ 1 c.148A>C r.(?) p.(Met50Leu)
+/+ 1 c.152A>C r.(?) p.His51Pro
+/+ 1 c.152A>C r.(?) p.(His51Pro)
+/+ 1 c.152A>C r.(?) p.(His51Pro)
+/+ 1 c.152A>C r.(?) p.(His51Pro)
+/+ 1 c.152A>C r.(?) p.(His51Pro)
+/+ 1 c.152A>C r.(?) p.(His51Pro)
+/+ 1 c.160G>C r.(?) p.(Ala54Pro)
+/+ 1 c.160G>C r.(?) p.(Ala54Pro)
+/+ 1 c.160G>C r.(?) p.(Ala54Pro)
+/+ 1 c.160G>C r.(?) p.(Ala54Pro)
-?/. - c.182-18C>T r.(=) p.(=)
+/+ 2 c.202G>T r.(?) p.(Gly68Cys)
+/+ 2 c.202G>T r.(?) p.(Gly68Cys)
+/+ 2 c.202G>T r.(?) p.Gly68Cys
+/+ 2 c.202G>T r.(?) p.(Gly68Cys)
+/+ 2 c.202G>T r.(?) p.(Gly68Cys)
+/+ 2 c.220G>C r.(?) p.(Ala74Pro)
+/+ 2 c.220G>C r.(?) p.(Ala74Pro)
+/+ 2 c.220G>C r.(?) p.(Ala74Pro)
+/+ 2 c.220G>C r.(?) p.(Ala74Pro)
+/+ 2 c.220G>C r.(?) p.Ala74Pro
+/+ 2 c.220G>C r.(?) p.(Ala74Pro)
+/+ 2 c.224C>T r.(?) p.(Ala75Val)
+/+ 2 c.224C>T r.(?) p.(Ala75Val)
+/+ 2 c.224C>T r.(?) p.(Ala75Val)
+/+ 2 c.224C>T r.(?) p.(Ala75Val)
+/+ 2 c.224C>T r.(?) p.Ala75Val
+/+ 2 c.233T>A r.(?) p.(Val78Glu)
+/+ 2 c.233T>A r.(?) p.(Val78Glu)
-?/. - c.240G>C r.(?) p.(Glu80Asp)
+/+ 2_3i c.242_327+65del r.182_327del p.?
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