Transcript #00001365

Transcript name transcript variant 1
Gene name KIF1A (kinesin family member 1A)
Chromosome 2
Transcript - NCBI ID NM_001244008.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001230937.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

379 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. - c.(?_-247)_(*3600_?)del likely pathogenic r.0? p.0?
?/. - c.31C>T VUS r.(?) p.(Arg11Trp)
+/. - c.37C>T pathogenic r.(?) p.(Arg13Cys)
?/. - c.38G>A VUS r.(?) p.(Arg13His)
?/. - c.89T>C VUS r.(?) p.(Met30Thr)
+?/. 2 c.89T>C VUS r.(?) p.(Met30Thr)
./. - c.106+24C>T - r.(=) p.(=)
./. - c.106+24C>T - r.(=) p.(=)
./. - c.106+35A>G - r.(=) p.(=)
./. - c.106+35A>G - r.(=) p.(=)
?/. - c.110T>C VUS r.(?) p.(Ile37Thr)
./. - c.138G>A - r.(=) p.(=)
./. - c.138G>A - r.(=) p.(=)
+/. - c.173C>T pathogenic r.(?) p.(Ser58Leu)
-/. - c.183+15C>T benign r.(=) p.(=)
-?/. - c.202G>A likely benign r.(?) p.(Ala68Thr)
?/. - c.203C>T VUS r.(?) p.(Ala68Val)
-?/. - c.204G>T likely benign r.(?) p.(=)
./. - c.204G>T - r.(=) p.(=)
./. - c.204G>T - r.(=) p.(=)
-?/. - c.204G>T likely benign r.(?) p.(=)
+?/. - c.206C>T likely pathogenic r.(?) p.(Ser69Leu)
+?/. - c.206C>T VUS r.(?) p.(Ser69Leu)
?/. - c.219G>A VUS r.(?) p.(=)
?/. 4 c.221A>G - r.(?) p.(Tyr74Cys)
+/. - c.223C>T pathogenic r.(?) p.(Arg75Trp)
-/. - c.234C>T benign r.(?) p.(=)
+/. 4 c.296C>T pathogenic r.(?) p.(Thr99Met)
+/. 4 c.296C>T pathogenic - p.Thr99Met
+?/. - c.304G>A likely pathogenic r.(?) p.(Gly102Ser)
+?/. 4 c.317C>A likely pathogenic r.(?) p.(Thr106Asn)
+/. - c.317C>A pathogenic r.(?) p.(Thr106Asn)
-?/. - c.363+7A>G likely benign r.(=) p.(=)
-?/. - c.363+7A>G likely benign r.(=) p.(=)
./. - c.363+16C>T - r.(=) p.(=)
./. - c.363+16C>T - r.(=) p.(=)
./. - c.363+69C>A - r.(=) p.(=)
./. - c.363+69C>A - r.(=) p.(=)
?/. - c.390C>G VUS r.(?) p.(Ile130Met)
-/. - c.393C>T benign r.(?) p.(=)
./. - c.393C>T - r.(=) p.(=)
./. - c.393C>T - r.(=) p.(=)
./. - c.429+22T>C - r.(=) p.(=)
./. - c.429+22T>C - r.(=) p.(=)
-?/. - c.430-8C>T likely benign r.(=) p.(=)
+?/. 6 c.444G>T likely pathogenic r.(?) p.(Glu148Asp)
+?/. - c.467A>T likely pathogenic r.(?) p.(Asp156Val)
+/. - c.499C>T pathogenic r.(?) p.(Arg167Cys)
?/. - c.499C>T VUS r.(?) p.(Arg167Cys)
+?/. - c.499C>T likely pathogenic r.(?) p.(Arg167Cys)
+?/. - c.500G>A likely pathogenic r.(?) p.(Arg167His)
+?/. - c.518T>C likely pathogenic r.(?) p.(Leu173Pro)
?/. - c.563_565del VUS r.(?) p.(Ser188del)
-?/. - c.579G>A likely benign r.(?) p.(=)
./. - c.608+35C>T - r.(=) p.(=)
./. - c.608+35C>T - r.(=) p.(=)
./. - c.608+46G>A - r.(=) p.(=)
./. - c.608+46G>A - r.(=) p.(=)
+?/. - c.633T>A likely pathogenic r.(?) p.(Asn211Lys)
./. - c.646C>T - r.(?) p.(Arg216Cys)
+?/. - c.647G>A ACMG: 4 r.(?) p.(Arg216His)
-?/. - c.714G>A likely benign r.(?) p.(=)
-?/. - c.720+5G>C likely benign r.spl? p.?
-?/. - c.720+5G>C likely benign r.spl? p.?
./. - c.720+30C>A - r.(=) p.(=)
./. - c.720+30C>A - r.(=) p.(=)
?/. - c.750T>A VUS r.(?) p.(=)
+?/. - c.756C>G VUS r.(?) p.(Ser252Arg)
?/. - c.756C>G VUS r.(?) p.(Ser252Arg)
+?/. - c.756C>G VUS r.(?) p.(Ser252Arg)
+?/. 8 c.760C>T likely pathogenic r.(?) p.(Arg254Trp)
+?/. 8 c.761G>A likely pathogenic r.(?) p.(Arg254Gln)
?/. - c.763G>C VUS r.(?) p.(Ala255Pro)
+?/. - c.773C>T VUS r.(?) p.(Thr258Met)
+/. - c.773C>T pathogenic r.(?) p.(Thr258Met)
+?/. - c.773C>T VUS r.(?) p.(Thr258Met)
+?/. - c.773C>T VUS r.(?) p.(Thr258Met)
+/. - c.798+1G>A pathogenic r.spl? p.?
+?/. - c.821C>T likely pathogenic r.(?) p.(Ser274Leu)
-?/. - c.849C>T likely benign r.(?) p.(=)
-?/. - c.864+11C>T likely benign r.(=) p.(=)
-/. - c.864+16C>T benign r.(=) p.(=)
./. - c.864+16C>T - r.(=) p.(=)
./. - c.864+16C>T - r.(=) p.(=)
-/. - c.864+16C>T benign r.(=) p.(=)
-/. - c.865-20_865-17del benign r.(=) p.(=)
./. - c.882+72T>C - r.(=) p.(=)
./. - c.882+72T>C - r.(=) p.(=)
+/. - c.914C>T pathogenic r.(?) p.(Pro305Leu)
+?/. 11 c.920G>A likely pathogenic r.(?) p.(Arg307Gln)
+/. 11 c.(935_936delinsTG) pathogenic - p.Thr312Met
+?/. 11 c.946C>T likely pathogenic r.(?) p.(Arg316Trp)
+/. - c.946C>T pathogenic r.(?) p.(Arg316Trp)
./. - c.959-39A>C - r.(=) p.(=)
./. - c.959-39A>C - r.(=) p.(=)
-/. - c.991T>C benign r.(?) p.(=)
./. - c.991T>C - r.(=) p.(=)
-/. - c.991T>C benign r.(?) p.(=)
./. - c.991T>C - r.(=) p.(=)
./. - c.991T>C - r.(=) p.(=)
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