Transcript #00008407 (NM_000161.2, GCH1 gene)

Transcript name transcript variant 1
Gene name GCH1 (GTP cyclohydrolase 1)
Chromosome 14
Transcript - NCBI ID NM_000161.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000152.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

37 entries on 1 page. Showing entries 1 - 37.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.66C>T r.(?) p.(Phe22=)
-?/. - c.68C>T r.(?) p.(Pro23Leu)
-?/. - c.68C>T r.(?) p.(Pro23Leu)
-?/. - c.68C>T r.(?) p.(Pro23Leu)
+/. - c.119dup r.(?) p.(Arg41Alafs*24)
?/. - c.139G>A r.(?) p.(Ala47Thr)
-?/. - c.206C>T r.(?) p.(Pro69Leu)
?/. - c.206C>T r.(?) p.(Pro69Leu)
?/. - c.206C>T r.(?) p.(Pro69Leu)
-?/. - c.211C>T r.(?) p.(Leu71=)
?/. - c.212T>A r.(?) p.(Leu71Gln)
?/. - c.212T>G r.(?) p.(Leu71Arg)
-?/. - c.225C>T r.(?) p.(Tyr75=)
+?/. - c.250G>A r.(?) p.(Glu84Lys)
+/. - c.295del r.(?) p.(Ala99ProfsTer19)
?/. - c.328C>G r.(?) p.(Gln110Glu)
+/. - c.422G>C r.(?) p.(Cys141Ser)
+/. - c.424G>T r.(?) p.(Glu142*)
+/. - c.454-2A>G r.spl? p.?
+/. - c.454-1G>A r.spl? p.?
?/. - c.458A>G r.(?) p.(His153Arg)
?/. 3 c.458A>T r.(?) p.(His153Leu)
-/. - c.509+15G>A r.(=) p.(=)
-?/. - c.543T>G r.(?) p.(Val181=)
?/. - c.565A>T r.(?) p.(Ile189Phe)
?/. - c.587C>A r.(?) p.(Ala196Asp)
+/. - c.590_597del r.(?) p.(Leu197Cysfs*8)
?/. - c.610G>A r.(?) p.(Val204Ile)
?/. - c.626+2dup r.(?) p.(?)
+?/. 5i c.626+2dup r.spl p.?
+/. - c.631_632del r.(?) p.(Met211fs)
+/. - c.631_632del r.(?) p.(Met211ValfsTer38)
+/. - c.646C>T r.(?) p.(Arg216Ter)
?/. - c.671A>G r.(?) p.(Lys224Arg)
+?/. - c.677_678del r.(?) p.(Val226AspfsTer23)
-?/. - c.*20C>T r.(=) p.(=)
-/. - c.*243C>T r.(=) p.(=)
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