Transcript #00015048

Transcript name transcript variant 8
Gene name OPA1 (optic atrophy 1 (autosomal dominant))
Chromosome 3
Transcript - NCBI ID NM_130837.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_570850.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

759 entries on 8 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
+/+? - c.(2440+1_2441-1))_(2872+1_2873-1)dup pathogenic r.? p.? -
-/-? - c.? benign r.(?) p.(=) Basic (exons 1-3)
-/-? - c.? benign r.(?) p.(=) Basic (exons 1-3)
+/+? - c.(?_-234)_(32+1_33-1)del pathogenic r.? p.? -
+/+? _1_6i c.(?_-1)_(678+1_679-1)del pathogenic r.0? p.0? Basic (exons 1-3)
+/+? _1_29i c.(?_-1)_(2983+1_2984-1)del pathogenic r.0? p.0? Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30)
+/+? _1_31_ c.(?_-1)_(*3211_?)del pathogenic r.0? p.0? Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30)
+/+? _30_31_ c.(2983+1_ 2984-1)_(*3212_?)del pathogenic r.(?) p.? -
+/+? _1_31 c.0 pathogenic r.0 p.0 -
+/+? _1_31 c.0 pathogenic r.0 p.0 -
+/+? _1_31 c.0 pathogenic r.0 p.0 -
+/+? _1_31_ c.0 pathogenic r.0 p.0 -
+/+? _1_31_ c.0 pathogenic r.0 p.0 -
+/+? _1_31_ c.0 pathogenic r.0 p.0 -
+/+? _1_31_ c.0 pathogenic r.0 p.0 -
+?/? 1 c.3G>A likely pathogenic r.(?) p.0? Basic (exons 1-3)
+/+? - c.3G>A pathogenic r.? p.? -
+?/? 1 c.3G>T likely pathogenic r.(?) p.0? Basic (exons 1-3)
+/+? 1 c.6G>A pathogenic r.(?) p.(Trp2*) Basic (exons 1-3)
+?/? 1 c.9_14del likely pathogenic r.(?) p.(Leu4_Arg5del) -
+/+? 1 c.22G>T pathogenic r.(?) p.(Ala8Ser) Basic (exons 1-3)
+/+? - c.30del pathogenic r.(?) p.(Cys11Valfs*7) -
?/. 1i c.32+24C>G VUS r.(?) p.(=) -
?/? 1i c.32+87del VUS r.(?) p.? Non-specific domain
-/-? 1i c.32+97G>A benign r.(?) p.(=) Basic (exons 1-3)
+/+? - c.33T>A pathogenic r.(?) p.(Cys11*) -
+/+? - c.(32+1_33-1)_(351+1_352-1)dup pathogenic r.? p.? -
+?/+? 1i_3i c.(32+1_33-1)_(448+1_449-1)del likely pathogenic r.spl p.? Basic (exons 1-3)
+?/+? 1i_29i c.(32+1_33-1)_(2983+1_2984-1)dup likely pathogenic r.? p.? Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30)
-?/? 2 c.43C>A likely benign r.(?) p.(Gln15Lys) Basic (exons 1-3)
+/-? - c.43C>A likely benign r.(?) p.(Gln15Lys) -
-/. - c.43C>A benign r.(?) p.(Gln15Lys) -
+/+? - c.50T>G pathogenic r.(?) p.(Leu17*) -
-?/? 2 c.70A>G likely benign r.(?) p.(Ile24Val) Basic (exons 1-3)
-?/. - c.70A>G likely benign r.(?) p.(Ile24Val) -
+/+? - c.71_73delinsAG pathogenic r.(?) p.(Ile24Lysfs*25) -
+/+? 2 c.91C>T pathogenic r.(?) p.(Gln31*) -
?/. - c.108_125del VUS r.(?) p.(Arg38_Ser43del) -
+/+? 2 c.112C>T pathogenic r.(?) p.(Arg38*) Basic (exons 1-3)
+/+? 2 c.113_130del pathogenic r.(?) p.(Arg38_Ser43del) Basic (exons 1-3)
+/+? 2 c.113_130del pathogenic r.(?) p.(Arg38_Ser43del) Basic (exons 1-3)
-/. 2 c.113_130del benign r.(?) p.(Arg38_Ser43del) -
+?/+? 2 c.113_130del likely pathogenic r.(?) p.(Arg38_Ser43del) Basic (exons 1-3)
+/+? 2 c.113_130del pathogenic r.(?) p.(Arg38_Ser43del) Basic (exons 1-3)
?/. 2 c.113_130del VUS r.(?) p.(Arg38_Ser43del) -
+/+? - c.113_130del pathogenic r.(?) p.(Arg38_Ser43del) -
?/. 2 c.113_130del VUS r.(?) p.(Arg38_Ser43del) -
?/. - c.113_130del VUS r.(?) p.(Arg38_Ser43del) -
+/+? - c.143T>G pathogenic r.(?) p.(Leu48*) -
+/+? 2 c.154C>T pathogenic r.(?) p.(Arg52*) Basic (exons 1-3)
+/. - c.181C>T pathogenic r.(?) p.(Gln61*) -
+/+? 2 c.181C>T pathogenic r.(?) p.(Gln61*) Basic (exons 1-3)
+/+? 2 c.190del pathogenic r.(?) p.(Ser64Leufs*2) Basic (exons 1-3)
+/+? 2 c.190del pathogenic r.(?) p.(Ser64Leufs*2) Basic (exon 1-3)
+?/+? - c.190_194del likely pathogenic r.(?) p.(Ser64Aspfs*7) -
-/-? - c.190_194del benign r.(?) p.(Ser64Aspfs*7) -
+/+ 2 c.224del pathogenic r.(?) p.(Phe75Serfs*19) -
+/+ 2 c.224del pathogenic r.(?) p.(Phe75Serfs*19) -
+/+? 2 c.239A>G pathogenic r.(?) p.(Tyr80Cys) Basic (exons 1-3)
+/+? 2 c.239A>G pathogenic r.(?) p.(Tyr80Cys) -
+/+? - c.245A>G pathogenic r.(?) p.(Tyr82Cys) -
+/+? 2 c.267G>A pathogenic r.(?) p.(Trp89*) Basic (exons 1-3)
+/+? 2 c.284C>T pathogenic r.(?) p.(Thr95Met) Basic (exons 1-3)
+/+? 2 c.305A>G pathogenic r.(?) p.(Tyr102Cys) Basic (exons 1-3)
+/+? 2 c.305A>G pathogenic r.(?) p.(Tyr102Cys) Basic (exon 1-3)
-?/-? 2 c.321G>A likely benign r.(?) p.(=) Basic (exons 1-3)
-/-? 2 c.321G>A benign r.(?) p.(=) Basic (exons 1-3)
+/+? 2 c.344C>T pathogenic r.(?) p.(Ala115Val) Basic (exons 1-3)
+/+? - c.344C>T pathogenic r.(?) p.(Ala115Val) -
+?/+? 3 c.356_357del likely pathogenic r.(?) p.(Phe119*) Basic (exons 1-3)
+/? 3 c.357del pathogenic r.(?) p.(Phe119Leufs*7) Basic (exons 1-3)
+/+? 3 c.361C>T pathogenic r.(?) p.(Gln121*) Basic (exons 1-3)
?/. 3 c.380C>T VUS r.(?) p.(Pro127Leu) -
?/. - c.380C>T VUS r.(?) p.(Pro127Leu) -
-?/? 3 c.381G>A likely benign r.(?) p.(=) Basic (exons 1-3)
+/+? - c.419del pathogenic r.(?) p.(Val140Glyfs*24) -
-?/. - c.420G>T likely benign r.(=) p.(=) -
-/. - c.420G>T benign r.(=) p.(=) -
-/-? 3 c.420G>T benign r.(?) p.(=) Basic (exons 1-3)
+/+? - c.422G>A pathogenic r.(?) p.(Trp141*) -
+/+? 3i c.448+1G>C pathogenic r.spl p.? Basic (exons 1-3)
+/. - c.448+1G>T pathogenic r.spl? p.? -
+/+? 3i c.448+2T>G pathogenic r.spl p.? Basic (exons 1-3)
+/? - c.449-34dup pathogenic r.(?) p.? -
+?/? 3i_10i c.(448+1_449-1)_(1035+1_1036-1)dup likely pathogenic r.? p.? GTPase (exons 10-17)
-/. - c.473G>A benign r.(?) p.(Ser158Asn) -
-/-? 4 c.473G>A benign r.(?) p.(Ser158Asn) Non-specific domain
-/-? 4 c.478G>C benign r.(?) p.(Glu160Gln) Non-specific domain
-/-? 4 c.500C>T benign r.(?) p.(Pro167Leu) Non-specific domain
-?/-? 4 c.534A>G likely benign r.(?) p.(=) Non-specific domain
-/-? 4i c.556+178G>T benign r.(?) p.(=) Non-specific domain
?/. - c.592G>A VUS r.(?) p.(Asp198Asn) -
+/+? 5i c.610+360G>A pathogenic r.(?) p.? Non-specific domain
+/+? 5i c.610+360G>A pathogenic r.(?) p.? Non-specific domain
+/+? 5i c.610+360G>A pathogenic r.(?) p.? Non-specific domain
+/+? 5i c.610+360G>A pathogenic r.(?) p.? Non-specific domain
+/+? 5i c.610+364G>A pathogenic r.(?) p.? Non-specific domain
+/+? 5i c.610+364G>A pathogenic r.(?) p.? Non-specific domain
+/+? 5i c.610+364G>A pathogenic r.(?) p.? Non-specific domain
+/+? 5i c.610+364G>A pathogenic r.(?) p.? Non-specific domain
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