Transcript #00003005

Transcript name transcript variant 1
Gene name ASXL1 (additional sex combs like 1 (Drosophila))
Chromosome 20
Transcript - NCBI ID NM_015338.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_056153.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

111 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.24G>T likely benign r.(?) p.(Lys8Asn)
-/. - c.57+19G>A benign r.(=) p.(=)
-/. - c.140+26A>G benign r.(=) p.(=)
-?/. - c.252+11T>C likely benign r.(=) p.(=)
?/. - c.314C>T VUS r.(?) p.(Thr105Met)
-?/. - c.374-9C>T likely benign r.(=) p.(=)
-/. - c.374-9C>T benign r.(=) p.(=)
-/. - c.374-9C>T benign r.(=) p.(=)
-?/. - c.450C>T likely benign r.(?) p.(=)
-/. - c.472-22T>C benign r.(=) p.(=)
?/. - c.472-2A>G VUS r.spl? p.?
-/. - c.540C>T benign r.(?) p.(=)
-?/. - c.572C>T likely benign r.(?) p.(Ser191Leu)
-/. - c.582C>T benign r.(?) p.(=)
?/. - c.764C>T VUS r.(?) p.(Pro255Leu)
?/. - c.883-2A>G VUS r.spl? p.?
?/. - c.947C>T VUS r.(?) p.(Ala316Val)
-?/. - c.990T>G likely benign r.(?) p.(=)
+/. - c.1175C>A pathogenic r.(?) p.(Ser392*)
-?/. - c.1178T>C likely benign r.(?) p.(Val393Ala)
-?/. - c.1205G>A likely benign r.(?) p.(Arg402Gln)
+/. - c.1210C>T pathogenic r.(?) p.(Arg404*)
+/. 12 c.1210C>T - r.(?) p.(Arg404*)
+/. 12 c.1210C>T ACMG: 5 r.(?) p.(Arg404*)
+/. - c.1283_1284del pathogenic r.(?) p.(Gln428Argfs*9)
-?/. - c.1429G>C likely benign r.(?) p.(Glu477Gln)
-?/. - c.1492G>A likely benign r.(?) p.(Ala498Thr)
+/. - c.1762C>T pathogenic r.(?) p.(Gln588*)
-?/. - c.1907C>T likely benign r.(?) p.(Ala636Val)
-?/. - c.1927G>T likely benign r.(?) p.(Gly643Trp)
+/. - c.1934dup pathogenic r.(?) p.(Gly646Trpfs*12)
-?/. - c.1934dup likely benign r.(?) p.(Gly646Trpfs*12)
-/. - c.1954G>A benign r.(?) p.(Gly652Ser)
-?/. - c.1954G>A likely benign r.(?) p.(Gly652Ser)
-?/. - c.1965C>T likely benign r.(?) p.(=)
+/. - c.1981A>T pathogenic r.(?) p.(Arg661*)
-?/. - c.2064G>A likely benign r.(?) p.(=)
-?/. - c.2127C>T likely benign r.(?) p.(=)
+/. 13 c.2197C>T - r.(?) p.(Gln733*)
+/. - c.2317G>T pathogenic r.(?) p.(Glu773*)
+/. - c.2324T>G pathogenic r.(?) p.(Leu775*)
+/. 13 c.2332C>T - r.(?) p.(Gln778*)
-?/. - c.2337T>G likely benign r.(?) p.(=)
-/. - c.2395G>T benign r.(?) p.(Asp799Tyr)
-?/. - c.2416A>G likely benign r.(?) p.(Thr806Ala)
?/. - c.2423C>A VUS r.(?) p.(Pro808His)
-?/. - c.2423C>A likely benign r.(?) p.(Pro808His)
-/. - c.2444T>C benign r.(?) p.(Leu815Pro)
-/. - c.2444T>C benign r.(?) p.(Leu815Pro)
+/. 13 c.2468T>G - r.(?) p.(Leu823*)
-/. - c.2513A>G benign r.(?) p.(Lys838Arg)
-?/. - c.2513A>G likely benign r.(?) p.(Lys838Arg)
-?/. - c.2526T>C likely benign r.(?) p.(=)
+/. 13 c.2535dup - r.(?) p.(Ser846Glnfs*5)
-?/. - c.2544A>T likely benign r.(?) p.(=)
-?/. - c.2558C>T likely benign r.(?) p.(Pro853Leu)
-?/. - c.2618C>T likely benign r.(?) p.(Pro873Leu)
+/. 13 c.2773C>T - r.(?) p.(Gln925*)
+/. - c.2893C>T pathogenic r.(?) p.(Arg965*)
-?/. - c.2957A>G likely benign r.(?) p.(Asn986Ser)
-/. - c.2985C>T benign r.(?) p.(=)
-/. - c.2985C>T benign r.(?) p.(=)
+/. 13 c.3083C>A - r.(?) p.(Ser1028*)
+?/. - c.3202C>T likely pathogenic r.(?) p.(Arg1068*)
-?/. - c.3274G>A likely benign r.(?) p.(Val1092Met)
-?/. - c.3274G>A likely benign r.(?) p.(Val1092Met)
-/. - c.3306G>T benign r.(?) p.(Glu1102Asp)
-/. - c.3306G>T benign r.(?) p.(Glu1102Asp)
-?/. - c.3306G>T likely benign r.(?) p.(Glu1102Asp)
-?/. - c.3379G>A likely benign r.(?) p.(Asp1127Asn)
-?/. - c.3384C>T likely benign r.(?) p.(=)
-?/. - c.3449G>T likely benign r.(?) p.(Gly1150Val)
-?/. - c.3482T>C likely benign r.(?) p.(Met1161Thr)
-/. - c.3498C>G benign r.(?) p.(Ser1166Arg)
-/. - c.3513G>A benign r.(?) p.(=)
-/. - c.3513G>A benign r.(?) p.(=)
-?/. - c.3519G>A likely benign r.(?) p.(=)
-/. - c.3519G>A benign r.(?) p.(=)
+/. - c.3596_3606del pathogenic r.(?) p.(Ala1199Glufs*9)
?/. - c.3635C>T VUS r.(?) p.(Ser1212Phe)
-?/. - c.3642T>G likely benign r.(?) p.(His1214Gln)
+/. - c.3642_3645del - r.(?) p.(His1214Glnfs*2)
?/. - c.3664T>G VUS r.(?) p.(Ser1222Ala)
-/. - c.3692C>T benign r.(?) p.(Ser1231Phe)
?/. - c.3692C>T VUS r.(?) p.(Ser1231Phe)
-?/. - c.3745A>G likely benign r.(?) p.(Met1249Val)
-?/. - c.3745A>G likely benign r.(?) p.(Met1249Val)
-/. - c.3759T>C benign r.(?) p.(=)
-/. - c.3759T>C benign r.(?) p.(=)
-/. - c.3759T>C benign r.(?) p.(=)
+?/. 12 c.3856C>T likely pathogenic r.(?) p.(Gln1286*)
?/. - c.3869C>T VUS r.(?) p.(Ala1290Val)
-?/. - c.3910C>G likely benign r.(?) p.(Leu1304Val)
-?/. - c.3935C>T likely benign r.(?) p.(Ala1312Val)
-?/. - c.3939C>T likely benign r.(?) p.(=)
?/. - c.3947_3948delinsTT VUS r.(?) p.(Arg1316Leu)
-/. - c.3973C>T benign r.(?) p.(Leu1325Phe)
-/. - c.3973C>T benign r.(?) p.(Leu1325Phe)
-?/. - c.4162A>C likely benign r.(?) p.(Thr1388Pro)
-?/. - c.4174C>T likely benign r.(?) p.(Pro1392Ser)
Legend   « First ‹ Prev     1 2     Next › Last »