Transcript #00020937

Transcript name transcript variant 1
Gene name TDP1 (tyrosyl-DNA phosphodiesterase 1)
Chromosome 14
Transcript - NCBI ID NM_018319.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_060789.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

33 entries on 1 page. Showing entries 1 - 33.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-230-14C>A benign r.(=) p.(=)
-?/. - c.-224A>G likely benign r.(?) p.(=)
-/. - c.-21C>T benign r.(?) p.(=)
?/. - c.19T>G VUS r.(?) p.(Tyr7Asp)
-?/. - c.236G>C likely benign r.(?) p.(Ser79Thr)
-/. - c.285G>T benign r.(?) p.(Glu95Asp)
-/. - c.291A>G benign r.(?) p.(=)
-/. - c.291A>G benign r.(?) p.(=)
-/. - c.291A>G benign r.(?) p.(=)
-/. - c.302C>T benign r.(?) p.(Pro101Leu)
-/. - c.400G>A benign r.(?) p.(Ala134Thr)
-/. - c.400G>A benign r.(?) p.(Ala134Thr)
-/. - c.537C>T benign r.(?) p.(=)
-?/. - c.716A>G likely benign r.(?) p.(His239Arg)
-?/. - c.774G>A likely benign r.(?) p.(=)
?/. - c.904T>C VUS r.(?) p.(Tyr302His)
-/. - c.911G>A benign r.(?) p.(Arg304Gln)
-?/. - c.931A>G likely benign r.(?) p.(Lys311Glu)
-/. - c.1077A>G benign r.(?) p.(=)
-/. - c.1077A>G benign r.(?) p.(=)
-/. - c.1098A>G benign r.(?) p.(=)
-?/. - c.1122A>G likely benign r.(?) p.(=)
-?/. - c.1165G>A likely benign r.(?) p.(Ala389Thr)
-/. - c.1317+11G>A benign r.(=) p.(=)
-?/. - c.1317+20G>A likely benign r.(=) p.(=)
-?/. - c.1317+20G>A likely benign r.(=) p.(=)
-/. - c.1317+26G>A benign r.(=) p.(=)
?/. - c.1343G>A VUS r.(?) p.(Arg448Gln)
-/. - c.1433+9T>C benign r.(=) p.(=)
-?/. - c.1433+15T>G likely benign r.(=) p.(=)
-?/. - c.1632C>T likely benign r.(?) p.(=)
-/. - c.1705A>G benign r.(?) p.(Thr569Ala)
-?/. - c.1800G>A likely benign r.(?) p.(=)
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