Transcript #00000927 (NM_000390.2, CHM gene)

Transcript name transcript variant 1
Gene name CHM (choroideremia (Rab escort protein 1))
Chromosome X
Transcript - NCBI ID NM_000390.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000381.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

1046 entries on 11 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     
+?/. - c.(116+1_117-1)_(*3450_?)del r.spl p.(?) -
+?/. - c.(1770+1_1771-1)_(*3450_?)del r.spl p.(?) -
+?/. _1_15_ c.(?_-33)_(*3450_?)del r.0? p.0? -
+?/. 5 c.0 r.0 p.0 -
+?/. 5 c.0 r.0 p.0 -
+?/. 5 c.0 r.0 p.0 -
+?/. 5 c.0 r.0 p.0 -
+?/. 5 c.0 r.0 p.0 -
?/. - c.? r.? p.? -
+/. - c.? r.? p.? -
+/. - c.? r.0 p.0 -
+/. - c.? r.? p.(Ala48_Glu113del) -
+/. - c.? r.? p.(Asp244Ilefs*2) -
+?/. - c.? r.0? p.0? -
+?/. - c.? r.0? p.0? -
+?/. - c.? r.0? p.0? -
+?/. - c.? r.0? p.0? -
+?/. - c.? r.0? p.0? -
+?/. - c.? r.0? p.0? -
+?/. - c.? r.0? p.0? -
+?/. - c.? r.0? p.0? -
+/+ _1_1i c.-30_49+9142{0} r.0? p.0? -
+?/+? _1 - r.0? p.0? -
+/? _1 - r.(?) p.(?) -
+/+ _1 - r.(?) p.(?) -
+/+ _1 - r.0? p.0? -
+?/. 1 c.-30-1_49+1del r.spl? p.? -
+?/. 1_2i c.-30-1_116+1del r.spl? p.? -
+?/. 1_11i c.-30-1_1413+1del r.spl? p.? -
+?/. 1_15 c.-30-1_*3450del r.spl? p.? -
+?/. 1_15 c.-30-1_*3450del r.spl? p.? -
+/. 1_15 c.-30-1_*3450+1del r.spl? p.? -
+/. 1_15 c.-30-1_*3450+1del r.spl? p.? -
+/. 1_15 c.-30-1_*3450+1del r.spl? p.? -
+/. 1_15 c.-30-1_*3450+1del r.spl? p.? -
+/+ _1_1i c.-30_(49+1_50-1){0} r.0 p.0 -
+/+ _1_1i c.-30_(49+1_50-1){0} r.0 p.0 -
+/+ _1_1i c.-30_(49+1_50-1){0} r.0 p.0 -
?/? _1_1i c.-30_(49+1_50-1){0} r.0 p.0 -
+/+ _1_1i c.-30_(49+1_50-1){0} r.0 p.0 -
+/+ _1_1i c.-30_(49+1_50-1){0} r.0 p.0 -
+/+ _1_2i c.-30_(116+1_117-1)dup;c.1167-?_1510+?dup r.0 p.0 -
+/+ _1_2i c.-30_(116+1_117-1){0} r.0 p.0 -
+/+ _1_8i c.-30_(1166+1_1167-1){0} r.0 p.0 -
+/+ _1_8i c.-30_(1166+1_1167-1){0} r.0 p.0 -
+/+ _1_11i c.-30_(1413+1_1414-1){0} r.0 p.0 -
+/+ _1_12i c.-30_(1510+1_1511-1){0} r.0 p.0 -
+/+ _1_13i c.-30_(1609+1_1610-1){0} r.0 p.0 -
+/. 1_15 c.-30_*3450del r.? p.? -
+/. 1_15 c.-30_*3450del r.? p.? -
+/. 1_15 c.-30_*3450del r.? p.? -
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 -
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 -
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 -
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 -
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 -
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 -
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 -
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 -
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 -
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 -
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 -
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 -
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 -
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 -
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 -
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 -
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 -
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 -
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 -
+/+ _1_15_ c.-30_*3450{0} r.0 p.0 -
+/. 1_15 c.-29-1_5412+1del r.spl? p.? -
+/. 1_15 c.-29-1_5412+1del r.spl? p.? -
+?/. - c.(?_-27)_(49+1_50-1)del r.spl p.(?) -
+?/. - c.(?_-27)_(49+1_50-1)del r.spl p.(?) -
+?/. - c.(?_-27)_(49+1_50-1)del r.spl p.(?) -
+?/. - c.(?_-1)_(49+1_50-1)del r.0? p.0? -
+/. 2i_15_ c.(116+1_117-1)_*3450{0} r.? p.0 -
+/. 14i_15_ c.(1770+1_1771-1)_*3450{0} r.? p.(Ala591_Glu653delins13) -
+/. 14i_15_ c.(1770+1_1771-1)_*3450{0} r.? p.(Ala591_Glu653delins13) -
+/. 6i_15_ c.(819+1_820-1)_*3450{0} r.? p.(Val274_Glu653delins13) -
+/. _1_15_ c.-30_*3450{0} r.0 p.0 -
+/. _1_15_ c.-30_*3450{0} r.0 p.0 -
+?/. _1_8i c.-30_1166+8052{0} r.0? p.0? -
+/. 1 c.-30_49+187{0} r.0? p.0? -
+/. _1_2i c.-30_(189+1_190-1){0} r.? p.? -
?/. - c.2T>A r.(?) p.(Met1?) -
+?/+ 1 c.3G>A r.3g>a p.0? -
+?/. - c.3G>A r.(?) p.(Met1?) -
+/. 1 c.3G>A r.(?) p.0? -
-?/. 1 c.8A>G r.(?) p.(Asp3Gly) -
+/+ 1 c.16_17dup r.16_17dup p.(Ser7Leufs*6) -
+/+ 1 c.17del r.(?) p.(Pro6Leufs*6) -
+/+ 1 c.20C>A r.20c>a p.(Ser7*) -
+?/. 1 c.22delG r.(?) p.(Glu8Serfs*4) -
+?/. 1 c.22delG r.(?) p.(Glu8Serfs*4) -
+?/. 1 c.22delG r.(?) p.(Glu8Serfs*4) -
+?/. 1 c.22delG r.(?) p.(Glu8Serfs*4) -
+?/. - c.22G>T r.(?) p.(Glu8*) -
+?/. - c.22G>T r.(?) p.(Glu8*) -
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