Transcript #00002721

Transcript name transcript variant 1
Gene name APRT (adenine phosphoribosyltransferase)
Chromosome 16
Transcript - NCBI ID NM_000485.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000476.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

84 entries on 1 page. Showing entries 1 - 84.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+?/. - c.-2622G>A likely pathogenic r.(?) p.(=)
+/. - c.1A>G pathogenic (recessive) r.(?) p.0?
+/. - c.1A>G pathogenic (recessive) r.(?) p.0?
+/. - c.3G>A pathogenic (recessive) r.(?) p.0?
?/. - c.80+3G>A VUS r.spl? p.?
+/. - c.119G>C pathogenic (recessive) r.(?) p.(Arg40Pro)
+/. - c.188G>A pathogenic (recessive) r.(?) p.(Gly63Asp)
+/. - c.194A>T pathogenic (recessive) r.(?) p.(Asp65Val)
+/. - c.199C>T pathogenic (recessive) r.(?) p.(Arg67*)
+/. - c.286_287del pathogenic (recessive) r.(?) p.(Thr96Serfs*13)
+/. 3 c.289_290del pathogenic r.(?) p.(Leu97Valfs*12)
+/. - c.289_290del pathogenic (recessive) r.(?) p.(Leu97Valfs*12)
+/. - c.289_290del pathogenic (recessive) r.(?) p.(Leu97Valfs*12)
+/. - c.289_290del pathogenic (recessive) r.(?) p.(Leu97Valfs*12)
+/. - c.311A>G pathogenic (recessive) r.(?) p.(Glu104Gly)
+/. 4 c.367del likely pathogenic r.(?) p.(Val123Trpfs*14)
+/. - c.371T>G pathogenic (recessive) r.(?) p.(Val124Gly)
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3)
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3)
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3)
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3)
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3)
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3)
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3)
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3)
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3)
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3)
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3)
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3)
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3)
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3)
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3)
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3)
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3)
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3)
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3)
+/. - c.400+2dup pathogenic (recessive) r.(322_400del) p.(Ala108Glu*3)
-?/. - c.401-51C>T likely benign r.(=) p.(=)
+/. - c.428T>C pathogenic (recessive) r.(?) p.(Leu143Pro)
+/. - c.472_474del pathogenic (recessive) r.(?) p.(Glu158del)
+/. - c.521_523del pathogenic (recessive) r.(?) p.(Phe174del)
+/. - c.521_523del pathogenic (recessive) r.(?) p.(Phe174del)
+/. - c.524C>T pathogenic (recessive) r.(?) p.(Ser175Phe)
+/. - c.526C>T pathogenic (recessive) r.(?) p.(Leu176Phe)
?/. - c.528C>T VUS r.(?) p.(=)
-?/. - c.529C>T likely benign r.(?) p.(=)
+/. - c.532C>T pathogenic (recessive) r.(?) p.(Gln178*)
+/. - c.541T>C pathogenic (recessive) r.(?) p.(*181Argext*?)
?/. - c.*1430T>A VUS r.(=) p.(=)
-?/. - c.*1440G>A likely benign r.(=) p.(=)
-/. - c.*1451G>A benign r.(=) p.(=)
-/. - c.*1474G>C benign r.(=) p.(=)
-/. - c.*1474G>C benign r.(=) p.(=)
-?/. - c.*1588G>C likely benign r.(=) p.(=)
-?/. - c.*2191_*2212dup likely benign r.(=) p.(=)
?/. - c.*2221C>T VUS r.(=) p.(=)
-?/. - c.*2282G>C likely benign r.(=) p.(=)
+/. - c.*2308C>T pathogenic r.(=) p.(=)
?/. - c.*2326T>G VUS r.(=) p.(=)
?/. - c.*2392T>G VUS r.(=) p.(=)
?/. - c.*2392T>G VUS r.(=) p.(=)
-?/. - c.*3179C>A likely benign r.(=) p.(=)
?/. - c.*3572C>A VUS r.(=) p.(=)
-?/. - c.*3594C>T likely benign r.(=) p.(=)
-/. - c.*3595A>G benign r.(=) p.(=)
-/. - c.*3595A>G benign r.(=) p.(=)
-/. - c.*3595A>G benign r.(=) p.(=)
-/. - c.*3877T>C benign r.(=) p.(=)
-/. - c.*3877T>C benign r.(=) p.(=)
?/. - c.*3937C>T VUS r.(=) p.(=)
-/. - c.*3961A>G benign r.(=) p.(=)
-/. - c.*3961A>G benign r.(=) p.(=)
-/. - c.*3961A>G benign r.(=) p.(=)
-?/. - c.*4108C>T likely benign r.(=) p.(=)
-?/. - c.*4134C>T likely benign r.(=) p.(=)
-?/. - c.*4155G>A likely benign r.(=) p.(=)
-/. - c.*4198T>C benign r.(=) p.(=)
?/. - c.*4815C>T VUS r.(=) p.(=)
-/. - c.*4853C>T benign r.(=) p.(=)
?/. - c.*4917G>T VUS r.(=) p.(=)
-?/. - c.*5054G>A likely benign r.(=) p.(=)
?/. - c.*5090T>C VUS r.(=) p.(=)
-/. - c.*5139A>G benign r.(=) p.(=)
-/. - c.*5139A>G benign r.(=) p.(=)
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