Transcript #00000496

Transcript name transcript variant 2
Gene name ACOT9 (acyl-CoA thioesterase 9)
Chromosome X
Transcript - NCBI ID NM_001033583.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001028755.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

36 entries on 1 page. Showing entries 1 - 36.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.20+120T>G - - p.(=)
?/. - c.21-374C>T - - p.(=)
?/. - c.21-374C>T - - p.(=)
?/. - c.38A>G VUS r.(?) p.(Lys13Arg)
-?/. - c.43C>T likely benign r.(?) p.(Gln15*)
-?/. - c.181A>G likely benign r.(?) p.(Met61Val)
-?/. - c.373+6G>C likely benign r.(=) p.(=)
?/. - c.373+255A>G - - p.(=)
?/. - c.457+92dup - - p.(=)
?/. - c.457+143T>C - - p.(=)
?/. - c.457+143T>C - - p.(=)
?/. - c.457+250G>A - - p.(=)
?/. - c.457+250G>A - - p.(=)
?/. - c.461T>C VUS r.(?) p.(Met154Thr)
?/. - c.482C>G VUS r.(?) p.(Pro161Arg)
?/. - c.561+141T>C - - p.(=)
?/. - c.561+141T>C - - p.(=)
?/. - c.561+237T>C - - p.(=)
-?/. - c.566A>G likely benign r.(?) p.(His189Arg)
-?/. - c.566A>G likely benign r.(?) p.(His189Arg)
-?/. - c.566A>G likely benign r.(?) p.(His189Arg)
?/. - c.566A>G - r.(?) p.(His189Arg)
?/. - c.737del VUS r.(?) p.(Thr246Serfs*4)
?/. - c.815+47_815+48insTT - - p.(=)
?/. - c.815+47_815+48insTTT - - p.(=)
?/. - c.815+48dup - - p.(=)
?/. - c.815+48dup - - p.(=)
?/. - c.835C>T VUS r.(?) p.(Arg279*)
?/. - c.898C>G VUS r.(?) p.(His300Asp)
?/. - c.907G>C - r.(?) p.(Glu303Gln)
?/. - c.923A>G VUS r.(?) p.(Asn308Ser)
?/. - c.993-64A>G - - p.(=)
?/. - c.993-64A>G - - p.(=)
?/. - c.1037A>G - r.(?) p.(Gln346Arg)
?/. - c.1196A>G - r.(?) p.(Lys399Arg)
?/. - c.1207T>C - r.(=) p.(=)
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