Transcript #00001841

Transcript name transcript variant 2
Gene name AATK (apoptosis-associated tyrosine kinase)
Chromosome 17
Transcript - NCBI ID NM_004920.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_004911.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

11 entries on 1 page. Showing entries 1 - 11.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.531+6T>G VUS r.(=) p.(=)
?/. - c.1151C>A VUS r.(?) p.(Ala384Glu)
-?/. - c.1221C>T likely benign r.(?) p.(=)
-?/. - c.1853C>T likely benign r.(?) p.(Pro618Leu)
-?/. - c.3181_3182insGGA likely benign r.(?) p.(Asp1061delinsGlyAsn)
-?/. - c.3265C>T likely benign r.(?) p.(Pro1089Ser)
-?/. - c.3722C>T likely benign r.(?) p.(Thr1241Met)
-?/. - c.*60425_*60428del likely benign r.(=) p.(=)
?/. - c.*60426_*60428del VUS r.(=) p.(=)
-?/. - c.*60427_*60428del likely benign r.(=) p.(=)
-?/. - c.*60428del likely benign r.(?) p.(=)
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