Transcript #00023876

Transcript name transcript variant 1
Gene name APTX (aprataxin)
Chromosome 9
Transcript - NCBI ID NM_175073.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_778243.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

145 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-111+16G>T benign r.(=) p.(=)
-?/. - c.-4-15T>C likely benign r.(=) p.(=)
+/+ _1_9_ c.0 pathogenic (recessive) r.0? p.0?
+/+ _1_9_ c.0 pathogenic (recessive) r.0 p.0
+/+ 2i_9_ c.5+1225_(*892_?)del pathogenic (recessive) r.? p.0?
?/. - c.1A>G VUS r.(?) p.?
?/. - c.18G>T VUS r.(?) p.(Trp6Cys)
-?/-? 3 c.18G>T likely benign r.(?) p.(Trp6Cys)
-?/. - c.38G>A likely benign r.(?) p.(Arg13Gln)
?/. - c.125G>T VUS r.(?) p.(Arg42Leu)
?/. 3i c.134-61A>G - r.(=) p.(=)
?/? 5 c.203T>C VUS r.(?) p.(Ile68Thr)
?/. - c.203T>C VUS r.(?) p.(Ile68Thr)
-?/. - c.211G>T likely benign r.(?) p.(Val71Phe)
-?/-? 5 c.211G>T likely benign r.(?) p.(Val71Phe)
-?/. - c.234G>A likely benign r.(?) p.(=)
-?/. - c.318C>T likely benign r.(?) p.(=)
-?/-? 5 c.318C>T likely benign r.(?) p.(=)
-/. - c.318C>T benign r.(?) p.(=)
-?/. - c.347A>G likely benign r.(?) p.(Lys116Arg)
-/. - c.378G>A benign r.(?) p.(=)
-?/-? 5 c.431C>A likely benign r.(?) p.(Ser144Tyr)
-?/-? 5 c.431C>A likely benign r.(?) p.(Ser144Tyr)
-?/-? 5 c.431C>A likely benign r.(?) p.(Ser144Tyr)
-/. - c.431C>A benign r.(?) p.(Ser144Tyr)
-/. - c.431C>A benign r.(?) p.(Ser144Tyr)
-?/-? 5 c.457A>G likely benign r.(?) p.(Lys153Glu)
-/. - c.457A>G benign r.(?) p.(Lys153Glu)
+/+ 5 c.477del pathogenic (recessive) r.(?) p.(Lys161Argfs*11)
-/. - c.484-25G>T benign r.(=) p.(=)
-/- 5i c.484-25_484-6del benign r.(?) p.?
-?/. - c.484-25_484-6del likely benign r.(=) p.(=)
-/- 5i c.484-25_484-5del benign r.(?) p.?
-/. - c.484-25_484-5del benign r.spl? p.?
-?/. - c.484-25_484-5del likely benign r.spl? p.?
-?/. - c.484-25_484-5del likely benign r.spl? p.?
-/. - c.484-25_484-4del benign r.spl? p.?
-?/. - c.484-25_484-4del likely benign r.spl? p.?
-/. - c.484-25_484-4del benign r.spl? p.?
-/. - c.484-21_484-20insGT benign r.(=) p.(=)
-?/. - c.484-13del likely benign r.(=) p.(=)
-?/. - c.484-13G>T likely benign r.(=) p.(=)
-/. - c.484-13G>T benign r.(=) p.(=)
-?/. - c.484-13G>T likely benign r.(=) p.(=)
-/. - c.484-12T>G benign r.(=) p.(=)
-/. - c.484-12T>G benign r.(=) p.(=)
-?/. - c.484-12_484-11insG likely benign r.(=) p.(=)
-/. - c.484-12_484-11insG benign r.(=) p.(=)
-/. - c.484-7_484-6insGTTTTT benign r.(=) p.(=)
-/. - c.484-5_484-4insGTTTTTTT benign r.spl? p.?
-/. - c.484-3del benign r.spl? p.?
-/. - c.484-3del benign r.spl? p.?
-?/. - c.484-3del likely benign r.spl? p.?
-?/. - c.484-3T>C likely benign r.spl? p.?
-/. - c.484-3_484-2insTTTTTTTTGTTTTTTTTT benign r.spl? p.?
+/+ 6 c.541C>T pathogenic (recessive) r.(?) p.(Gln181*)
-/- 6i c.543+30A>C benign r.(?) p.?
-/. - c.543+30A>C benign r.(=) p.(=)
+/. - c.559C>T pathogenic r.(?) p.(Gln187*)
+/+ 7 c.559C>T pathogenic (recessive) r.(?) p.(Gln187*)
+/+ 7 c.559C>T pathogenic (recessive) r.(?) p.(Gln187*)
+/. - c.559C>T pathogenic r.(?) p.(Gln187*)
+/+ 7 c.589A>C pathogenic (recessive) r.(?) p.(Lys197Gln)
+/+ 7 c.593C>T pathogenic (recessive) r.(?) p.(Ala198Val)
+/. - c.593C>T pathogenic r.(?) p.(Ala198Val)
+/+ 7 c.593C>T pathogenic (recessive) r.(?) p.(Ala198Val)
+/+ 7 c.596G>A pathogenic (recessive) r.(?) p.(Arg199His)
+/. - c.596G>A pathogenic r.(?) p.(Arg199His)
+/+ 7 c.596G>A pathogenic (recessive) r.(?) p.(Arg199His)
?/. 7 c.596G>A - r.(?) p.(Arg199His)
+/+ 7 c.601del pathogenic (recessive) r.(?) p.(His201Ilefs*13)
+/+ 7 c.602A>G pathogenic (recessive) r.(?) p.(His201Arg)
+/+ 7 c.603T>A pathogenic (recessive) r.(?) p.(His201Gln)
+/+ 7 c.617C>T pathogenic (recessive) r.(?) p.(Pro206Leu)
+/+ 7 c.617C>T pathogenic (recessive) r.(?) p.(Pro206Leu)
+/+ 7 c.617C>T pathogenic (recessive) r.(?) p.(Pro206Leu)
+/+ 7 c.617C>T pathogenic (recessive) r.(?) p.(Pro206Leu)
+/+ 7 c.668T>C pathogenic (recessive) r.(?) p.(Leu223Pro)
+/? 7 c.683A>G pathogenic (recessive) r.(?) p.(His228Arg)
+/+ 7 c.689dup pathogenic (recessive) r.(?) p.(Glu232Glyfs*38)
+/+ 7 c.689dup pathogenic (recessive) r.(?) p.(Glu232Glyfs*38)
+/+ 7 c.689dup pathogenic (recessive) r.(?) p.(Glu232Glyfs*38)
+/+ 7 c.689dup pathogenic (recessive) r.(?) p.(Glu232Glyfs*38)
+/+ 7 c.689dup pathogenic (recessive) r.(?) p.(Glu232Glyfs*38)
+/+ 7 c.689T>G pathogenic (recessive) r.(?) p.(Val230Gly)
+/+ 7 c.692G>A pathogenic (recessive) r.(?) p.(Gly231Glu)
+/? 7 c.725G>A pathogenic (recessive) r.(?) p.(Ser242Asn)
-?/. - c.731T>C likely benign r.(?) p.(Leu244Pro)
?/. - c.734G>A VUS r.(?) p.(Arg245His)
+/+ 7 c.739C>T pathogenic (recessive) r.(?) p.(Arg247*)
+/. - c.739C>T pathogenic r.(?) p.(Arg247*)
+/+ 7 c.739C>T pathogenic (recessive) r.(?) p.(Arg247*)
-?/. - c.742T>A likely benign r.(?) p.(Leu248Met)
?/? 7 c.742T>A VUS r.(?) p.(Leu248Met)
?/? 7 c.742T>A VUS r.(?) p.(Leu248Met)
?/. - c.742T>A VUS r.(?) p.(Leu248Met)
?/. - c.762G>A VUS r.(?) p.(=)
-?/. - c.770G>A likely benign r.(?) p.(Ser257Asn)
+/+ 7 c.770+1G>A pathogenic (recessive) r.(?) p.?
+/+ 7 c.770+1G>A pathogenic (recessive) r.(?) p.?
Legend   « First ‹ Prev     1 2     Next › Last »