Transcript #00000172

Transcript name deoxyguanosine kinase, transcript variant 1
Gene name DGUOK (deoxyguanosine kinase)
Chromosome 2
Transcript - NCBI ID NM_080916.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_550438.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

15 entries on 1 page. Showing entries 1 - 15.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/? 1 c.115C>T - r.(115c>u) p.(Arg39*)
-/. - c.159G>A - r.(=) p.(=)
-/. - c.159G>A benign r.(=) p.(=)
?/. - c.509A>G VUS r.(?) p.(Gln170Arg)
?/. - c.509A>G - r.(?) p.(Gln170Arg)
+/? 4 c.591G>A - r.spl? p.?
?/. - c.617G>A - r.(?) p.(Arg206Lys)
?/. - c.638G>A VUS r.(?) p.(Gly213Glu)
+/? 5 c.679G>A - r.(679g>a) p.(Glu227Lys)
-?/. - c.708-3T>C likely benign r.spl? p.?
+/. - c.763_766dup ACMG: 5 r.(?) p.(Phe256*)
+/. - c.797T>G ACMG: 5 r.(?) p.(Leu266Arg)
-/. - c.*13A>T benign r.(=) p.(=)
-/. - c.*13A>T benign r.(=) p.(=)
-/. - c.*13A>T benign r.(=) p.(=)
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