Transcript #00000024

Transcript name dystrophin, transcript variant Dp427m
Gene name DMD (dystrophin)
Chromosome X
Transcript - NCBI ID NM_004006.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_003997.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

18338 entries on 184 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. 1i_79_ c.(-182_59)_(*1524_?)del pathogenic (recessive) r.? p.(fs*)
+/. 49i_79_ c.(7099-10_7309+14)_(*1524_?)del pathogenic (recessive) r.? p.(fs*)
+/. 67i_79_ c.(9779_9857)_(*1524_?)del pathogenic (recessive) r.? p.(fs*)
+/. 0i_79_ c.-244(_-182)_(*1524_?)del pathogenic (recessive) r.? p.(fs*)
+/. 0i_79_ c.-244(_-182)_(*1524_?)del pathogenic (recessive) r.? p.(fs*)
+/. 0i_1i c.-244(_-182)_(-182_59)del pathogenic (recessive) r.? p.(fs*)
+/. 0i_16i c.-244(_-182)_(1852_2085)del pathogenic (recessive) r.? p.(fs*)
+/. 0i_2i c.-244(_-182)_(59_128)del pathogenic (recessive) r.? p.(fs*)
+/. 0i_48i c.-244(_-182)_(7018_7099-10)del pathogenic (recessive) r.? p.(fs*)
+/. 0i_9i c.-244(_-182)_(859_988)del pathogenic (recessive) r.? p.(fs*)
+/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.? p.(fs*)
+/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.? p.(fs*)
+/. _0_39i c.-244_(5449-4_5587-23)del pathogenic (recessive) r.? p.(fs*)
+/. _0_2i c.-244_(59_128)del pathogenic (recessive) r.? p.(fs*)
+/. _0_44i c.-244_(6382_6538)del pathogenic (recessive) r.? p.(fs*)
+/. 25i c.3433-2_ 3433-1inv pathogenic (recessive) r.spl p.?
+/. _1_40i c.? pathogenic (recessive) r.? p.?
+/. - c.? pathogenic (recessive) r.? p.(fs*)
+/. _1_43i c.? pathogenic (recessive) r.? p.?
+/. _1_43i c.? pathogenic (recessive) r.? p.?
+/. 3i_69i c.? pathogenic (recessive) r.? p.?
+/. 44i_63i c.? pathogenic (recessive) r.? p.?
+/. - c.? pathogenic (recessive) r.? p.?
+/. - c.? pathogenic (recessive) r.? p.?
+/. - c.? pathogenic (recessive) r.? p.?
+/. - c.? pathogenic (recessive) r.? p.?
+/. 12i_51i c.? pathogenic (recessive) r.? p.?
+/. 9i_44i c.? pathogenic (recessive) r.? p.?
+/. 2i_8i c.? pathogenic (recessive) r.? p.?
+/. 47i_51i c.? pathogenic (recessive) r.? p.?
+/. 16i_46i c.? pathogenic (recessive) r.? p.?
+/. - c.? pathogenic (recessive) r.? p.(fs*)
+/. 56 c.? pathogenic (recessive) r.(?) p.?
+/. 33 c.? pathogenic (recessive) r.(?) p.?
+/. 17 c.? pathogenic (recessive) r.(?) p.?
+/. 16 c.? pathogenic (recessive) r.(?) p.?
+/. 12 c.? pathogenic (recessive) r.(?) p.?
+/. 11 c.? pathogenic (recessive) r.(?) p.?
+/. 10 c.? pathogenic (recessive) r.(?) p.?
+/. 18 c.? pathogenic (recessive) r.(?) p.?
+/. 7 c.? pathogenic (recessive) r.(?) p.?
+/. 25 c.? pathogenic (recessive) r.(?) p.?
+/. 2 c.? pathogenic (recessive) r.(?) p.?
+/. 25 c.? pathogenic (recessive) r.(?) p.?
+/. 11 c.? pathogenic (recessive) r.(?) p.?
+/. 7 c.? pathogenic (recessive) r.(?) p.?
+/. 23 c.? pathogenic (recessive) r.(?) p.?
+/. 11 c.? pathogenic (recessive) r.(?) p.?
+/. 20 c.? pathogenic (recessive) r.(?) p.?
+/. 11 c.? pathogenic (recessive) r.(?) p.?
+/. 35 c.? pathogenic (recessive) r.(?) p.?
+/. 18 c.? pathogenic (recessive) r.(?) p.?
+/. 10 c.? pathogenic (recessive) r.(?) p.?
+/. 33 c.? pathogenic (recessive) r.(?) p.?
+/. _1_43i c.? pathogenic (recessive) r.? p.?
+/. 39i_53i c.? pathogenic (recessive) r.? p.?
+/. 51i_79_ c.? pathogenic (recessive) r.? p.?
+/. 55i_71i c.? pathogenic (recessive) r.? p.?
+/. - c.? pathogenic (recessive) r.? p.(del)
?/. _0_1i c.(?_-989604)_(31+79696_32-1)dup VUS r.? p.?
-/. _0 c.-202238G>A benign r.(?) p.(=)
+/. _0_9i c.-244_(859_988)del pathogenic (recessive) r.0? p.0?
-?/. _0 c.-128499_-128498del likely benign r.(?) p.(=)
-/. _0 c.-128410A>C benign r.(=) p.(=)
?/. _0_0i c.-244_(-128064_-182)dup VUS r.? p.?
?/. _0_0i c.-244_(-128064_-182)del VUS r.? p.?
+/. _0_1i c.(?_-128297)_(31+83220_32-1)del pathogenic (recessive) r.0 p.0
+/. _0_1i c.(?_-128297)_(31+83220_32-1)del pathogenic (recessive) r.0 p.0
+/. _0_1i c.(?_-128297)_(31+83220_32-1)del pathogenic (recessive) r.0 p.0
+/. _0_1i c.(?_-128297)_(31+83220_32-1)del pathogenic (recessive) r.0 p.0
+/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.0? p.0?
+/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.0? p.?
+/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.0? p.0?
+/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.0? p.0?
+/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.0? p.0?
?/. _0_1i c.-244_(-182_59)dup VUS r.? p.?
+/. _0_2_ c.[(?_-24528297)_(-127947_-245)dup;(31+1_32-1)_(93+1_94-1)dup] pathogenic (recessive) r.? p.?
+/. _0_2i c.-244_(59_128)del pathogenic (recessive) r.0 p.0
+/. _0_7_ c.[(?_-128297)_(-127947_?)dup; (31+1_32-1)_(649+1_650-1)dup] pathogenic (recessive) r.(?) p.?
+/. _0_7i c.-244_(558_831+11)del pathogenic (recessive) r.0 p.?
+/. _0_9_ c.[(?_-128297)_(31+1_32-1)dup; (93+1_94-1)_(960+1_961-1)dup] pathogenic (recessive) r.? p.?
+/. _0_9i c.-244_(859_988)dup pathogenic (recessive) r.(?) p.?
+/. _0_18i c.-244_(2226_2293-9)del pathogenic (recessive) r.0? p.0?
+/. _0_18i c.-244_(2226_2293-9)del pathogenic (recessive) r.0? p.0?
+/+ _0_18i c.-244_(2226_2293-9)del pathogenic (recessive) r.0? p.0?
+/. _0_18i c.-244_(2226_2293-9)del pathogenic (recessive) r.0? p.0?
+/. _0_30i c.-244_(4194_4312)del pathogenic (recessive) r.0 p.0
+/. _0_31i c.(?_-128297)_(4344+1_4345-1)del pathogenic (recessive) r.0? p.?
+?/. _0_44i c.-244_(6382_6538)del likely pathogenic r.0? p.0?
+/. _0_44i c.-244_(6382_6538)del pathogenic (recessive) r.0 p.0
+/. _0_44i c.-244_(6382_6538)del pathogenic (recessive) r.0 p.0
+/. _0_45i c.-244_(6538_6706)del pathogenic (recessive) r.0? p.0?
+/. _0_47i c.-244_(6810_7018)del pathogenic (recessive) r.0 p.0
+/. _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0 p.0
+/. _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0? p.0?
+/. _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0 p.0
+/. _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0 p.0
+/+ _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0 p.0
+/+ _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0 p.0
+/. _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0 p.0
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »