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

17289 entries on 173 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. 49i_79_ c.(7200+1_7201-1)_(*1_?)del pathogenic (recessive) r.? p.(fs*)
+/. - c.3433-2_ 3433-1inv pathogenic (recessive) r.spl p.?
+/. _1_40i c.? - r.? p.?
+/. _1_43i c.? - r.? p.?
+/. _1_43i c.? - r.? p.?
+/. 3i_69i c.? - r.? p.?
+/. 44i_63i c.? - r.? p.?
+/. - c.? pathogenic (recessive) r.? p.?
+/. - c.? pathogenic (recessive) r.? p.?
+/. - c.? pathogenic (recessive) r.? p.?
+/. - c.? pathogenic (dominant) r.? p.?
+/. 12i_51i c.? - r.? p.?
+/. 9i_44i c.? - r.? p.?
+/. 2i_8i c.? - r.? p.?
+/. 47i_51i c.? - r.? p.?
+/. 16i_46i c.? - r.? p.?
+/. 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.? - r.? p.?
+/. 39i_53i c.? - r.? p.?
+/. 51i_79_ c.? - r.? p.?
+/. 55i_71i c.? - r.? p.?
-/. 0-Dp427c c.-202238G>A - r.(?) p.(=)
+/. _0_9i c.(?_-129319)_(960+1_961-1)del - r.0? p.0?
-?/. 0-Dp427c c.-128499_-128498del - r.(?) p.(=)
-/. 0-Dp427c c.-128410A>C - r.(=) p.(=)
?/. _0_1 c.(?_-128297)_(-127947_-1)del - r.? p.?
+/. _0_1i c.(?_-128297)_(31+1_32-1)del - r.0? p.0?
+/. _0_1i c.(?_-128297)_(31+1_32-1)del - r.0? p.?
+/. _0_1i c.(?_-128297)_(31+1_32-1)del - r.0? p.0?
+/. _0_1i c.(?_-128297)_(31+1_32-1)del - r.0? p.0?
+/. _0_1i c.(?_-128297)_(31+1_32-1)del - r.0? p.0?
?/. _0_1i c.(?_-128297)_(31+1_32-1)dup - r.? p.?
+/. _0_1i c.(?_-128297)_(31+83220_32-1)del - r.0 p.0
+/. _0_1i c.(?_-128297)_(31+83220_32-1)del - r.0 p.0
+/. _0_1i c.(?_-128297)_(31+83220_32-1)del - r.0 p.0
+/. _0_1i c.(?_-128297)_(31+83220_32-1)del - r.0 p.0
+/. _0_2_ c.[(?_-128297)_(-127947_-1)dup;(31+1_32-1)_(93+1_94-1)dup] - r.? p.?
+/. _0_2i c.(?_-128297)_(93+1_94-1)del - r.0 p.0
+/. _0_7_ c.[(?_-128297)_(-127947_?)dup; (31+1_32-1)_(649+1_650-1)dup] - r.(?) p.?
+/. _0_7i c.(?_-128297)_(649+1_650-1)del - r.0 p.?
+/. _0_9_ c.[(?_-128297)_(31+1_32-1)dup; (93+1_94-1)_(960+1_961-1)dup] - r.? p.?
+/. _1_9i c.(?_-128297)_(960+1_961-1)dup - r.(?) p.?
+/. _1_18i c.(?_-128297)_(2292+1_2293-1)del - r.0? p.0?
+/. _0_18i c.(?_-128297)_(2292+1_2293-1)del - r.0? p.0?
+/+ _1_18i c.(?_-128297)_(2292+1_2293-1)del - r.0? p.0?
+/. _0_18i c.(?_-128297)_(2292+1_2293-1)del - r.0? p.0?
+/. _0_30i c.(?_-128297)_(4233+1_4234-1)del - r.0 p.0
+/. _0_31i c.(?_-128297)_(4344+1_4345-1)del - r.0? p.?
+/. _0_44i c.(?_-128297)_(6438+1_6439-1)del - r.0 p.0
+/. _0_44i c.(?_-128297)_(6438+1_6439-1)del - r.0 p.0
+/. _1_45i c.(?_-128297)_(6614+1_6615-1)del - r.0? p.0?
+/. _0_47i c.(?_-128297)_(6912+1_6913-1)del - r.0 p.0
+/. _0_79_ c.(?_-128297)_(*1_?)del - r.0 p.0
+/. _0_79_ c.(?_-128297)_(*1_?)del - r.0? p.0?
+/. _0_79_ c.(?_-128297)_(*1_?)del - r.0 p.0
+/. _0_79_ c.(?_-128297)_(*1_?)del - r.0 p.0
+/+ _0_79_ c.(?_-128297)_(*1_?)del - r.0 p.0
+/+ _0_79_ c.(?_-128297)_(*1_?)del - r.0 p.0
+/. _0_79_ c.(?_-128297)_(*1_?)del - r.0 p.0
+/. _0_79_ c.(?_-128297)_(*1_?)del - r.0 p.0
+/. _0_79_ c.(?_-128297)_(*1_?)del - r.0 p.0
-/. 0-Dp427c c.-128249G>T - r.(=) p.(=)
-/. 0-Dp427c c.-128163A>G - r.(?) p.(=)
-/. 0-Dp427c c.-128163A>G - r.(=) p.(=)
-/. 0-Dp427c c.-128163A>G - r.(=) p.(=)
-/. 0-Dp427c c.-127831del - r.(=) p.(=)
-/. 0-Dp427c c.-127810T>C - r.(=) p.(=)
?/. 1ci_7i c.(-127946_-244)_(649+1_650-1)dup - r.? p.?
+/. 0_2i c.(-127947_-1)_(93+1_94-1)del - r.? p.?
+/. 0_4i c.(-127947_-1)_(264+1_265-1)del - r.0? p.0?
+/. 0_13i c.(-127947_-1)_(1602+1_1603-1)del - r.? p.?
-/. 0-Dp427m c.-46953C>G - r.(?) p.(=)
?/. _1_ c.(?_-25798)_(7+108860_?)x3 - r.? p.?
-/. 0-Dp427m c.-25482G>C - r.(?) p.(=)
+/. 0-Dp427m c.-13496_31+1783del - r.0? p.0?
+/. 1 c.-1443_31+4726delinsTTTTTAAAATTA - r.0? p.0?
-/. 1 c.-807A>T - r.(=) p.(=)
+/. 1 c.-648_0dup - r.(?) p.(Met1?)
-/. 0-Dp427m c.-419A>G - r.(?) p.(=)
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