Transcript #00023879

Transcript name transcript variant 1
Gene name KARS (lysyl-tRNA synthetase)
Chromosome 16
Transcript - NCBI ID NM_001130089.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001123561.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

22 entries on 1 page. Showing entries 1 - 22.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.22A>T VUS r.(?) p.(Arg8Trp)
-/. - c.159A>G benign r.(=) p.(=)
-/. - c.307-7del benign r.(=) p.(=)
-/. - c.307-7del benign r.(=) p.(=)
-/. - c.307-7_307-6del benign r.(=) p.(=)
-/. - c.307-7_307-6del benign r.(=) p.(=)
-/. - c.307-6del benign r.(=) p.(=)
-/. - c.307-6del benign r.(=) p.(=)
-/. - c.307-6del benign r.(=) p.(=)
+?/. - c.323G>A likely pathogenic r.(?) p.(Arg108His)
?/. - c.454A>G VUS r.(?) p.(Ile152Val)
-/. - c.696A>G benign r.(=) p.(=)
?/. - c.871T>G VUS r.(?) p.(Phe291Val)
?/. - c.1025G>A VUS r.(?) p.(Arg342Gln)
?/. - c.1028T>C VUS r.(?) p.(Val343Ala)
-/. - c.1163-7C>T benign r.(=) p.(=)
?/. - c.1262G>A VUS r.(?) p.(Arg421Gln)
?/. - c.1262G>A VUS r.(?) p.(Arg421Gln)
-/. - c.1422+47T>C - r.(=) p.(=)
+?/. - c.1426G>T likely pathogenic r.(?) p.(Val476Phe)
?/. - c.1718C>T VUS r.(?) p.(Ala573Val)
-/. - c.1868C>G benign r.(?) p.(Thr623Ser)
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