Transcript #00002014

Transcript name transcript variant 2
Gene name ACTA2 (actin, alpha 2, smooth muscle, aorta)
Chromosome 10
Transcript - NCBI ID NM_001613.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001604.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

138 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-38202C>G likely benign r.(?) p.(=)
-?/. - c.-144C>G likely benign r.(?) p.(=)
-?/. - c.-24+395_-24+396insA likely benign r.(=) p.(=)
-?/. - c.-24+745C>T likely benign r.(=) p.(=)
-?/. - c.-24+1187T>C likely benign r.(=) p.(=)
-?/. - c.-24+1513C>T likely benign r.(=) p.(=)
-?/. - c.-23-867A>T likely benign r.(=) p.(=)
-?/. - c.-23-866T>C likely benign r.(=) p.(=)
-?/. - c.-23-615T>G likely benign r.(=) p.(=)
-?/. - c.-23-461G>A likely benign r.(=) p.(=)
?/. - c.13G>C VUS r.(?) p.(Glu5Gln)
-?/. - c.42T>C likely benign r.(?) p.(=)
+?/. - c.107T>C likely pathogenic r.(?) p.(Ile36Thr)
+/. - c.115C>T pathogenic r.(?) p.(Arg39Cys)
+/. - c.116G>A pathogenic r.(?) p.(Arg39His)
-?/. - c.129+100T>C likely benign r.(=) p.(=)
-?/. - c.129+433C>G likely benign r.(=) p.(=)
-?/. - c.129+563T>G likely benign r.(=) p.(=)
-?/. - c.129+623T>C likely benign r.(=) p.(=)
-?/. - c.130-254T>C likely benign r.(=) p.(=)
-/. - c.130-25C>T benign r.(=) p.(=)
?/. - c.133G>A VUS r.(?) p.(Val45Met)
?/. - c.134T>G VUS r.(?) p.(Val45Gly)
+?/. 3 c.143G>T - r.(?) p.(Gly48Val)
-?/. - c.174C>T likely benign r.(?) p.(=)
+?/. - c.179C>A likely pathogenic r.(?) p.(Ala60Glu)
-?/. - c.258+270C>T likely benign r.(=) p.(=)
-?/. - c.258+487A>G likely benign r.(=) p.(=)
-?/. - c.258+958C>T likely benign r.(=) p.(=)
-?/. - c.258+962dup likely benign r.(=) p.(=)
-?/. - c.258+1050C>G likely benign r.(=) p.(=)
-?/. - c.258+1296G>C likely benign r.(=) p.(=)
-?/. - c.258+1377A>G likely benign r.(=) p.(=)
-?/. - c.259-1373G>T likely benign r.(=) p.(=)
-/. - c.259-136del benign r.(=) p.(=)
-?/. - c.259-104_259-103insG likely benign r.(=) p.(=)
?/. - c.296C>G VUS r.(?) p.(Ala99Gly)
?/. - c.323C>T VUS r.(?) p.(Thr108Met)
-/. - c.369+30G>C benign r.(=) p.(=)
-/. - c.369+30G>C benign r.(=) p.(=)
-/. - c.369+89G>A benign r.(=) p.(=)
-?/. - c.369+93C>T likely benign r.(=) p.(=)
-/. - c.369+108C>T benign r.(=) p.(=)
-?/. - c.369+280dup likely benign r.(=) p.(=)
-?/. - c.369+425_369+426insC likely benign r.(=) p.(=)
-?/. - c.369+849C>T likely benign r.(=) p.(=)
-?/. - c.369+855T>G likely benign r.(=) p.(=)
-?/. - c.370-927G>A likely benign r.(=) p.(=)
-?/. - c.370-874T>A likely benign r.(=) p.(=)
-?/. - c.370-817_370-816insC likely benign r.(=) p.(=)
-/. - c.370-19T>C benign r.(=) p.(=)
-/. - c.370-19T>C benign r.(=) p.(=)
-/. - c.370-19T>C benign r.(=) p.(=)
?/. - c.386T>C - r.(?) p.(Phe129Ser)
?/. - c.409G>A VUS r.(?) p.(Ala137Thr)
-?/. - c.417G>A likely benign r.(?) p.(=)
+?/. - c.419C>T likely pathogenic r.(?) p.(Ala140Val)
-/. - c.439T>C benign r.(?) p.(Ser147Pro)
+/. - c.445C>T pathogenic r.(?) p.(Arg149Cys)
+?/. - c.445C>T likely pathogenic r.(?) p.(Arg149Cys)
-/. - c.454+65G>A benign r.(=) p.(=)
-?/. - c.454+172_454+173insC likely benign r.(=) p.(=)
-?/. - c.454+177_454+178insT likely benign r.(=) p.(=)
-?/. - c.455-161C>T likely benign r.(=) p.(=)
-?/. - c.455-96G>A likely benign r.(=) p.(=)
-/. - c.455-74C>T benign r.(=) p.(=)
-/. - c.455-17G>A benign r.(=) p.(=)
-/. - c.455-17G>A benign r.(=) p.(=)
-?/. - c.465G>A likely benign r.(?) p.(=)
-?/. - c.471T>C likely benign r.(?) p.(=)
?/. - c.485C>A VUS r.(?) p.(Thr162Asn)
-?/. - c.513T>C likely benign r.(?) p.(=)
-?/. - c.516C>T likely benign r.(?) p.(=)
+?/. - c.523C>G likely pathogenic r.(?) p.(His175Asp)
?/. - c.523C>G VUS r.(?) p.(His175Asp)
+?/. - c.526G>A likely pathogenic r.(?) p.(Ala176Thr)
+/. - c.535C>T pathogenic r.(?) p.(Arg179Cys)
+/. - c.536G>A pathogenic r.(?) p.(Arg179His)
+/. - c.536G>A pathogenic r.(?) p.(Arg179His)
+?/. - c.553C>T likely pathogenic r.(?) p.(Arg185*)
-?/. - c.558T>C likely benign r.(?) p.(=)
?/. - c.587C>G VUS r.(?) p.(Thr196Ser)
?/. - c.607G>C VUS r.(?) p.(Val203Leu)
-/. - c.616+192_616+194del benign r.(=) p.(=)
-?/. - c.617-703T>G likely benign r.(=) p.(=)
-?/. - c.617-224C>T likely benign r.(=) p.(=)
-?/. - c.617-163C>T likely benign r.(=) p.(=)
?/. - c.623G>A VUS r.(?) p.(Arg208His)
+/. - c.635G>A pathogenic r.(?) p.(Arg212Gln)
-?/. - c.729G>A likely benign r.(?) p.(=)
+?/. - c.734C>T likely pathogenic r.(?) p.(Pro245Leu)
?/. - c.743A>G - r.(?) p.(Gln248Arg)
?/. - c.757G>A VUS r.(?) p.(Gly253Arg)
+/. - c.808G>A pathogenic r.(?) p.(Gly270Arg)
-?/. - c.808+244A>T likely benign r.(=) p.(=)
-?/. - c.808+278C>T likely benign r.(=) p.(=)
-?/. - c.809-453C>T likely benign r.(=) p.(=)
-?/. - c.809-437G>A likely benign r.(=) p.(=)
+?/. - c.835A>G likely pathogenic r.(?) p.(Thr279Ala)
+?/. - c.854T>C likely pathogenic r.(?) p.(Met285Thr)
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