Transcript #00000927

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

610 entries on 7 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
+/+ _1_1i c.-2008_49+9142del pathogenic r.0? p.0? -
+?/+? 1 c.-108A>G likely pathogenic r.(=) p.(=) -
+/? 1 c.-98C>A pathogenic r.(?) p.(?) -
+/+ 1 c.-98C>T pathogenic r.(?) p.(?) -
+/+ 1 c.-90C>G ACMG: 5 r.(=) p.(=) -
+/+ _1_1i c.(?_-30)_(49+1_50-1)del pathogenic r.0 p.0 -
+/+ _1_1i c.(?_-30)_(49+1_50-1)del pathogenic r.0 p.0 -
+/+ _1_1i c.(?_-30)_(49+1_50-1)del pathogenic r.0 p.0 -
?/? _1_1i c.(?_-30)_(49+1_50-1)del VUS r.0 p.0 -
+/+ _1_1i c.(?_-30)_(49+1_50-1)del pathogenic r.0 p.0 -
+/+ _1_1i c.(?_-30)_(49+1_50-1)del pathogenic r.0 p.0 -
+/+ _1_2i c.(?_-30)_(116+1_117-1)del pathogenic r.0 p.0 -
+/+ _1_2i c.(?_-30)_(116+1_117-1)dup;c.1167-?_1510+?dup pathogenic r.0 p.0 -
+/+ _1_8i c.(?_-30)_(1166+1_1167-1)del pathogenic r.0 p.0 -
+/+ _1_8i c.(?_-30)_(1166+1_1167-1)del pathogenic r.0 p.0 -
+/+ _1_11i c.(?_-30)_(1413+1_1414-1)del pathogenic r.0 p.0 -
+/+ _1_12i c.(?_-30)_(1510+1_1511-1)del pathogenic r.0 p.0 -
+/+ _1_13i c.(?_-30)_(1609+1_1610-1)del pathogenic r.0 p.0 -
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 -
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 -
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 -
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 -
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 -
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 -
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 -
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 -
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 -
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 -
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 -
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 -
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 -
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 -
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 -
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 -
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 -
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 -
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 -
+/+ _1_15_ c.(?_-30)_(*3450_?)del pathogenic r.0 p.0 -
+?/+ 1 c.3G>A ACMG: 4 r.3g>a p.0? -
+/. - c.3G>A pathogenic r.(?) p.0? -
-?/. - c.8A>G likely benign r.(?) p.(Asp3Gly) -
+/+ 1 c.16_17dup pathogenic r.16_17dup p.(Ser7Leufs*6) -
+/+ 1 c.17del pathogenic r.(?) p.(Pro6Leufs*6) -
+/+ 1 c.20C>A pathogenic r.20C>A p.(Ser7*) -
+/+ 1 c.25_28delinsAGTAATAGTAA pathogenic r.25_28delUUUGinsAGUAAUAGUAA p.Phe9Serfs*14 -
+/+ 1 c.25_28delinsAGTAATAGTAA pathogenic r.25_28delUUUGinsAGUAAUAGUAA p.Phe9Serfs*14 -
+/. - c.25_28delinsAGTAATAGTAA pathogenic r.(?) p.(Phe9Serfs*14) -
+/+ 1 c.37del pathogenic r.37del p.(Val13*) -
+/. - c.37del pathogenic r.(?) p.(Val13*) -
+/+ 1 c.49G>T pathogenic r.(?) p.(?) -
+/+ 1i c.49+1G>A pathogenic r.spl p.? -
+/. - c.49+1G>C pathogenic r.spl p.? -
+/. - c.49+1G>C pathogenic r.spl p.? -
+/+ 1i c.49+2dup pathogenic r.spl p.? -
+/. - c.49+2dup pathogenic r.spl? p.? -
+/+ 1i c.49+3A>G pathogenic r.spl? p.? -
+/. - c.49+3A>G pathogenic r.spl? p.? -
+/+ 1i c.49+3del pathogenic r.spl? p.? -
+/+ 1i c.49+3_49+10delinsGCTT pathogenic r.spl? p.? -
+/+ 1i c.49+5G>T pathogenic r.spl? p.? -
+/+ 1i c.49+5G>T pathogenic r.spl? p.? -
?/. - c.50-214del VUS r.(?) p.(=) -
+/+ 1i c.50-1G>C pathogenic r.spl p.? -
+/+ 1i c.50-1G>C pathogenic r.spl p.? -
?/. - c.50G>C VUS r.(?) p.(Gly17Ala) -
+/+ 1i c.(49+1_50-1)_(116+1_117-1)del pathogenic r.(?) p.(?) -
+/+ 1i_3 c.(49+1_50-1)_(189+1_190-1)del pathogenic r.50_189del p.Gly17Aspfs*10 -
+/+ 1i_4i c.(49+1_50-1)_(314+1_315-1)del pathogenic r.? p.? -
+/+ 1i_4i c.(49+1_50-1)_(314+1_315-1)del pathogenic r.? p.? -
+/+ 2 c.82del pathogenic r.82del p.(Ser28Glnfs*32) -
+/. - c.82del pathogenic r.(?) p.(Ser28Glnfs*32) -
+?/+? 2 c.104T>C likely pathogenic r.104U>C p.(Leu35Pro) -
+?/+? 2 c.104T>C likely pathogenic r.104U>C p.(Leu35Pro) -
+/+ 2 c.116C>A pathogenic r.116C>A p.(Ser39*) -
+/. - c.116C>A pathogenic r.(?) p.(Ser39*) -
+/+ 2i c.116+1G>A pathogenic r.spl p.? -
+/+ 2i c.116+1G>A pathogenic r.spl p.? -
+/+ 2i c.116+1G>A pathogenic r.spl p.? -
+/+ 2i c.116+1G>A pathogenic r.spl p.? -
+/. - c.116+1G>A pathogenic r.spl p.(Gly17Glufs) -
+/. - c.116+1G>A pathogenic r.spl? p.? -
+/+ 2i c.116+1G>C pathogenic r.spl p.? -
+/. - c.116+1G>C pathogenic r.spl p.(Gly17Glufs) -
+/+ 2i c.116+1G>T pathogenic r.50_116del p.Gly17Glufs*21 -
+/. - c.116+1G>T pathogenic r.116_117del p.? -
+/. - c.116+2T>C pathogenic r.spl? p.? -
?/. - c.116+80C>T VUS r.(?) p.(=) -
?/. - c.116+80C>T VUS r.(?) p.(=) -
?/. - c.116+80C>T VUS r.(?) p.(=) -
?/. - c.116+80C>T VUS r.(?) p.(=) -
?/. - c.116+80C>T VUS r.(?) p.(=) -
?/. - c.116+80C>T VUS r.(?) p.(=) -
?/. - c.116+80C>T VUS r.(?) p.(=) -
?/. - c.116+215_116+216insCCTTT VUS r.(?) p.(=) -
?/. - c.116+215_116+216insCCTTT VUS r.(?) p.(=) -
?/. - c.116+215_116+216insCCTTT VUS r.(?) p.? -
?/. - c.116+215_116+216insCCTTT VUS r.(?) p.? -
?/. - c.116+215_116+216insCCTTT VUS r.(?) p.? -
?/. - c.116+215_116+216insCCTTT VUS r.(?) p.? -
-/. - c.117-23_117-12dup benign r.(=) p.(=) -
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