Transcript #00000024 (NM_004006.2, DMD gene)

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

32148 entries on 322 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 1i_79_ c.(-183_58)_(*1523_?)del r.? p.?
+/. 1i_79_ c.(-183_58)_(*1523_?)del r.? p.?
+/. 0i_79 c.(-194_-144)_(*1564_*1614)del r.0? p.?
+/. 0i_79 c.(-60_-10)_(*10_*60)del r.0? p.?
+/. 3i_79_ c.(128_228)_*2691{0}del r.? p.?
+/. 17i_27i c.(2084_2225)_(3663_3812)del r.? p.?
+/. 19i_22i c.(2293-§0_2442)_(2922_3156)del r.? p.(fs)
+/. 19i_29i c.(2293-§0_2442)_(3990_4193)del r.? p.(fs)
+/. 34i_35i c.(4739_4890)_(4890_5080)del r.? p.?
+/. 2i_19i c.(58_127)_(2293-§0_2442)del r.? p.(fs*)
+/. 44i_52i c.(6438+1_6439-1)_7660+1_7661-1)del r.? p.?
+/. 44i_52i c.(6438+1_6439-1)_7660+1_7661-1)del r.? p.?
+/. 45i_50i c.(6537_6705)_(7309+13_7422)del r.? p.?
+/. 45i_79_ c.(6614+2302_6614+2352)_*2691{0} r.? p.?
+/. 45i_79_ c.(6614+2302_6614+2352)_*2691{0} r.? p.?
+/. 47i_52i c.(6912+1_6913-1)_()del r.? p.?
+/. 55i_79 c.(8218-60_8218-10)_(*10_*60)del r.? p.?
+/. 56i_79 c.(8391-4555_8391-4505)_(*2548_*2598)del r.? p.?
+/. 9i_19i c.(858_987)_(2293-§0_2442)del r.? p.(fs*)
+/. 9i_19i c.(858_987)_(2293-§0_2442)del r.? p.(fs*)
+/. 59i_79_ c.(8797_8967)_(*1523_?)del r.? p.?
+/. 60i_78i c.(8967_9117)_(11046+43_*1523)dup r.? p.(del)
./. 60i_79_ c.(8968_9118)_*2691dup r.? -
./. 60i_79_ c.(8968_9118)_*2691dup r.? -
+/. 62i_79_ c.(9186_9245)_(*1523_?)dup r.? p.?
+/. 62i_78i c.(9186_9245)_(11046+43_*1523)del r.? p.fs
+/. 62i_78i c.(9186_9245)_(11046+43_*1523)del r.? p.fs
+/. 63i_79_ c.(9245_9338)_(*1523_?)dup r.? -
+/. 9i_79_ c.(960+17577_960+17627)_*2691{0} r.? p.?
+/. 10i_11i c.(987_1174)_(1174_13834del r.? p.(fs)
+/. 10i_11i c.(987_1174)_(1174_13834del r.? p.(fs)
+/. 0i_1i c.-241_(31+1_32-1){0} r.? p.?
+/. 0i_1i c.-244(_-182)_(-182_59){0} r.? p.(fs*)
+/. 0i_79_ c.-244(_-183)_(*1523_?){0} r.? p.(fs*)
+/. 0i_79_ c.-244(_-183)_(*1523_?){0} r.? p.(fs*)
+/. 0i_79_ c.-244(_-183)_(*1523_?){0} r.0? p.0?
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0?
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0?
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0?
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0?
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0?
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.?
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.?
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.?
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.?
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.?
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.?
+/. 0i_1i c.-244(_-183)_(-183_58){2} r.? p.?
+/. 0i_12i c.-244(_-183)_(1384_1601){0} r.? p.(fs*)
+/. 0i_13i c.-244(_-183)_(1601_1603-8){0} r.? p.0?
+/. 0i_16i c.-244(_-183)_(1851_2084){0} r.? p.(fs*)
+/. 0i_18i c.-244(_-183)_(2225_2293-10){0} r.? p.0?
+/. 0i_6i c.-244(_-183)_(410_557){0} r.0? p.0?
+/. 0i_2i c.-244(_-183)_(58_127){0} r.? p.?
+/. 0i_2i c.-244(_-183)_(58_127){0} r.? p.(fs*)
+/. 0i_2i c.-244(_-183)_(58_127){0} r.0? p.0?
+/. 0i_2i c.-244(_-183)_(58_127){2} r.? p.?
+/. 0i_2i c.-244(_-183)_(58_127){2} r.? p.?
+?/. 0i_2i c.-244(_-183)_(58_127){2} r.? p.?
+/. 0i_43i c.-244(_-183)_(6195_6381){0} r.? p.?
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.? p.?
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.? p.?
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.? p.(fs*)
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.0? p.0?
+/. 0i_47i c.-244(_-183)_(6809_7017){0} r.? p.?
+/. 0i_48i c.-244(_-183)_(7017_7099-11)del r.? p.?
+/. 0i_48i c.-244(_-183)_(7017_7099-11){0} r.? p.(fs*)
./. 0i_55i c.-244(_-183)_(8068_8390+10){0} r.? p.?
+/. 0i_9i c.-244(_-183)_(858_987)del r.? p.?
+/. 0i_9i c.-244(_-183)_(858_987){0} r.? p.(fs*)
+/. 0i_60i c.-244(_-183)_(8967_9117){0} r.? p.?
+/. 0i_60i c.-244(_-183)_(8967_9117){0} r.? p.?
+/. 0i_62i c.-244(_-183)_(9186_9245){0} r.? p.?
+/. _0_79 c.-244_(*1524_?){0} r.0? p.0?
+/. _0_1i c.-244_(-182_59){0} r.? p.(fs*)
./. _0_1i c.-244_(-182_59){0} r.? p.?
./. _0_1i c.-244_(-182_59){0} r.? p.?
+/. _0_1i c.-244_(-182_59){0} r.? p.(fs*)
+/. _0_1i c.-244_(-182_59){0} r.? p.0?
+/. _0_1i c.-244_(-182_59){2} r.? p.?
+/. _0_1i c.-244_(-18{0}2_59){0} r.? p.?
./. _0_17i c.-244_(2085_2226){0} r.? p.?
+/. _0_39i c.-244_(5449-4_5587-23){0} r.? p.(fs*)
+/. _0_2i c.-244_(59_128){0} r.? p.?
+/. _0_2i c.-244_(59_128){0} r.? p.(fs*)
./. 0i_2i c.-244_(59_128){0} r.? p.?
+/. _0_44i c.-244_(6382_6538){0} r.? p.?
+/. _0_44i c.-244_(6382_6538){0} r.? p.(fs*)
+/. _0_7i c.-244_(649+1_650-1){2} r.? p.?
+/. _0_7i c.-244_(649+1_650-1){2} r.? p.?
+/. _0_47i c.-244_(6810_7018){0} r.0? p.0?
+/. _0_60i c.-244_(8967_9117){0} r.? p.0?
+/. _0_2i c.-244_(93+17277_93+17327){2} r.? p.?
+/. _0_2i c.-244_(93+1_94-1){2} r.? p.?
+/. _0_79_ c.-244_*2691{0} r.0 p.0
+/. _0_79_ c.-244_*2691{0} r.0? p.?
+/. _0_79_ c.-244_*2691{0} r.0? p.?
./. _0_0i c.-244_-244(_-182)del r.? p.?
+/. _0_1i c.-244__(-182_59){0} r.? p.?
+/. _0_29i c.-244__(3991_4194)del r.? p.?
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