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

18581 entries on 186 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. 60i_79_ c.(8968_9118)_(*1524_?)del pathogenic (recessive) r.? p.(fs*)
+/. 0i_79_ c.-244(_-182)_(*1524_?)[0] pathogenic (recessive) r.? p.(fs*)
+/. 0i_79_ c.-244(_-182)_(*1524_?)[0] pathogenic (recessive) r.? p.(fs*)
+/. 0i_1i c.-244(_-182)_(-182_59)[0] 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_2i c.-244(_-182)_(59_128)del pathogenic (recessive) r.0? p.0?
+/. 0i_48i c.-244(_-182)_(7018_7099-10)[0] pathogenic (recessive) r.? p.(fs*)
+/. 0i_9i c.-244(_-182)_(859_988)[0] pathogenic (recessive) r.? p.(fs*)
+/. _0_1i c.-244_(-182_59)[0] pathogenic (recessive) r.? p.(fs*)
+/. _0_1i c.-244_(-182_59)[0] pathogenic (recessive) r.? p.(fs*)
+/. _0_39i c.-244_(5449-4_5587-23)[0] pathogenic (recessive) r.? p.(fs*)
+/. _0_2i c.-244_(59_128)[0] pathogenic (recessive) r.? p.(fs*)
+/. _0_44i c.-244_(6382_6538)[0] pathogenic (recessive) r.? p.(fs*)
+/. _0_47i c.-244_(6810_7018)[0] pathogenic (recessive) r.0? p.0?
+/. 25i c.3433-2_ 3433-1inv pathogenic (recessive) r.spl p.?
+/. _1_40i c.? pathogenic (recessive) r.? p.?
+/. _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.?
+/. 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.?
-/. _0 c.-202238G>A benign r.(?) p.(=)
+/. _0_9i c.-244_(859_988)[0] pathogenic (recessive) r.0? p.0?
-?/. _0 c.-128499_-128498del likely benign r.(?) p.(=)
-/. _0 c.-128410A>C benign r.(=) p.(=)
+/. _0_1i c.-244_(-182_59)[0] pathogenic (recessive) r.0? p.0?
+/. _0_1i c.-244_(-182_59)[0] pathogenic (recessive) r.0? p.0?
+/. _0_1i c.-244_(-182_59)[0] pathogenic (recessive) r.0? p.0?
+/. _0_1i c.-244_(-182_59)[0] pathogenic (recessive) r.0? p.0?
?/. _0_1i c.-244_(-182_59)[2] VUS r.? p.?
+/. _0_1i c.-244_(31+29960_31+30066)[0] pathogenic (recessive) r.0 p.0
+/. _0_1i c.-244_(31+83220_32-1)[0] pathogenic (recessive) r.0 p.0
+/. _0_1i c.-244_(31+83220_32-1)[0] pathogenic (recessive) r.0 p.0
+/. _0_1i c.-244_(31+83220_32-1)[0] pathogenic (recessive) r.0 p.0
+/. _0_2i c.-244_(59_128)[0] pathogenic (recessive) r.0 p.0
+/. _0_7i c.-244_(558_831+11)[0] pathogenic (recessive) r.0 p.?
+/. _0_9i c.-244_(859_988)[2] pathogenic (recessive) r.(?) p.?
+/. _0_18i c.-244_(2226_2293-9)[0] pathogenic (recessive) r.0? p.0?
+/. _0_18i c.-244_(2226_2293-9)[0] pathogenic (recessive) r.0? p.0?
+/+ _0_18i c.-244_(2226_2293-9)[0] pathogenic (recessive) r.0? p.0?
+/. _0_18i c.-244_(2226_2293-9)[0] pathogenic (recessive) r.0? p.0?
+/. _0_30i c.-244_(4194_4312)[0] pathogenic (recessive) r.0 p.0
+/. _0_31i c.-244_(4344+1_4345-1)[0] pathogenic (recessive) r.0? p.?
+?/. _0_44i c.-244_(6382_6538)[0] likely pathogenic r.0? p.0?
+/. _0_44i c.-244_(6382_6538)[0] pathogenic (recessive) r.0 p.0
+/. _0_44i c.-244_(6382_6538)[0] pathogenic (recessive) r.0 p.0
+/. _0_45i c.-244_(6538_6706)[0] pathogenic (recessive) r.0? p.0?
+/. _0_47i c.-244_(6810_7018)[0] pathogenic (recessive) r.0 p.0
+/. _0_79_ c.-244_(*1524_?)[0] pathogenic (recessive) r.0 p.0
+/. _0_79_ c.-244_(*1524_?)[0] pathogenic (recessive) r.0? p.0?
+/+ _0_79_ c.-244_(*1524_?)[0] pathogenic (recessive) r.0 p.0
+/+ _0_79_ c.-244_(*1524_?)[0] pathogenic (recessive) r.0 p.0
+/. _0_79_ c.-244_(*1524_?)[0] pathogenic (recessive) r.0 p.0
+/. _0_79_ c.-244_(*1524_?)[0] pathogenic (recessive) r.0 p.0
+/. _0_79_ c.-244_(*1524_?)[0] pathogenic (recessive) r.0 p.0
+/. _0_79_ c.-244_*2691[0] pathogenic (recessive) r.0 p.0
+/. _0_79_ c.-244_*2691[0] pathogenic (recessive) r.0 p.0
-/. 0 c.-128249G>T benign r.(=) p.(=)
-/. 0 c.-128163A>G benign r.(?) p.(=)
-/. 0 c.-128163A>G benign r.(=) p.(=)
-/. 0 c.-128163A>G benign r.(=) p.(=)
-/. _1 c.-127831del benign r.(=) p.(=)
-/. _1 c.-127810T>C benign r.(=) p.(=)
?/. 0i_7i c.-244(_-182)_(558_831+11)[2] VUS r.? p.?
+/. 0i_2i c.-244(_-182)_(59_128)del pathogenic (recessive) r.? p.?
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