Transcript #00023887

Transcript name transcript variant 1
Gene name OPA1 (optic atrophy 1 (autosomal dominant))
Chromosome 3
Transcript - NCBI ID NM_015560.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_056375.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

753 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.(2166+1_2167-1)_(2275+1_2276_1)del - r.? p.? -
?/. - c.-277C>T - r.(?) p.(=) -
+/+? - c.(?_-234)_(32+1_33-1)del - r.? p.? -
./. - c.(?_-1)_(624+1_625-1)del - r.0? p.0? -
./. - c.(?_-1)_(2818+1_2819-1)del - r.0? p.0? -
./. - c.(?_-1)_(*3211_?)del - r.0? p.0? -
./. - c.(1847+1_1848-1)_(2355 +1_2356-1)dup - r.? p.? -
+/+? _1_29_ c.0 pathogenic r.0 p.0 -
+/+? _1_29_ c.0 pathogenic r.0 p.0 -
+/+? _1_29_ c.0 pathogenic r.0 p.0 -
+/+? _1_29_ c.0 pathogenic r.0 p.0 -
+/+? _1_29_ c.0 pathogenic r.0 p.0 -
+/+? _1_29_ c.0 pathogenic r.0 p.0 -
+/+? _1_29_ c.0 pathogenic r.0 p.0 -
./. - c.3G>A - r.? p.? -
+/+? - c.3G>A - r.? p.? -
./. - c.3G>T - r.? p.? -
./. - c.6G>A - r.(?) p.(Trp2*) -
+?/? 1 c.9_14del - r.(?) p.(Leu4_Arg5del) -
./. - c.22G>T - r.(?) p.(Ala8Ser) -
+/+? - c.30del - r.(?) p.(Cys11Valfs*7) -
?/. - c.32+24C>G - r.(?) p.(=) -
./. - c.32+87del - r.(?) p.(=) -
./. - c.32+97G>A - r.(?) p.(=) -
+/+? - c.33T>A - r.(?) p.(Cys11*) -
+/+? - c.(32+1_33-1)_(351+1_352-1)dup - r.? p.? -
./. - c.(32+1_33-1)_(448+1_449-1)del - r.spl p.? -
./. - c.(32+1_33-1)_(2818+1_2819-1)dup - r.? p.? -
./. - c.43C>A - r.(?) p.(Gln15Lys) -
+/-? - c.43C>A likely benign r.(?) p.(Gln15Lys) -
-/. - c.43C>A benign r.(?) p.(Gln15Lys) -
+/+? - c.50T>G - r.(?) p.(Leu17*) -
./. - c.70A>G - r.(?) p.(Ile24Val) -
-?/. - c.70A>G likely benign r.(?) p.(Ile24Val) -
+/+? - c.71_73delinsAG - r.(?) p.(Ile24Lysfs*25) -
+/+? 2 c.91C>T - r.(?) p.(Gln31*) -
?/. - c.108_125del VUS r.(?) p.(Arg38_Ser43del) -
./. - c.112C>T - r.(?) p.(Arg38*) -
./. - c.113_130del - r.(?) p.(Arg38_Ser43del) -
./. - c.113_130del - r.(?) p.(Arg38_Ser43del) -
-/. 2 c.113_130del - r.(?) p.(Arg38_Ser43del) -
./. - c.113_130del - r.(?) p.(Arg38_Ser43del) -
./. - c.113_130del - r.(?) p.(Arg38_Ser43del) -
?/. 2 c.113_130del - r.(?) p.(Arg38_Ser43del) -
+/+? - c.113_130del - r.(?) p.(Arg38_Ser43del) -
?/. 2 c.113_130del - r.(?) p.(Arg38_Ser43del) -
?/. - c.113_130del VUS r.(?) p.(Arg38_Ser43del) -
+/+? - c.143T>G - r.(?) p.(Leu48*) -
./. - c.154C>T - r.(?) p.(Arg52*) -
+/. - c.181C>T pathogenic r.(?) p.(Gln61*) -
./. - c.181C>T - r.(?) p.(Gln61*) -
./. - c.190del - r.(?) p.(Ser64Leufs*2) -
+/+? - c.190del - r.(?) p.(Ser64Leufs*2) Basic (exon 1-3)
+?/+? - c.190_194del - r.(?) p.(Ser64Aspfs*7) -
-/-? - c.190_194del - r.(?) p.(Ser64Aspfs*7) -
+/+ 2 c.224del - r.(?) p.(Phe75Serfs*19) -
+/+ 2 c.224del - r.(?) p.(Phe75Serfs*19) -
./. - c.239A>G - r.(?) p.(Tyr80Cys) -
+/+? - c.239A>G - r.(?) p.(Tyr80Cys) -
+/+? - c.245A>G - r.(?) p.(Tyr82Cys) -
./. - c.267G>A - r.(?) p.(Trp89*) -
./. - c.284C>T - r.(?) p.(Thr95Met) -
./. - c.305A>G - r.(?) p.(Tyr102Cys) -
+/+? - c.305A>G - r.(?) p.(Tyr102Cys) Basic (exon 1-3)
./. - c.321G>A - r.(?) p.(=) -
./. - c.321G>A - r.(?) p.(=) -
./. - c.344C>T - r.(?) p.(Ala115Val) -
+/+? - c.344C>T - r.(?) p.(Ala115Val) -
./. - c.356_357del - r.(?) p.(Phe119*) -
./. - c.357del - r.(?) p.(Phe119Leufs*7) -
./. - c.361C>T - r.(?) p.(Gln121*) -
?/. - c.380C>T - r.(?) p.(Pro127Leu) -
?/. - c.380C>T VUS r.(?) p.(Pro127Leu) -
./. - c.381G>A - r.(?) p.(=) -
+/+? - c.419del - r.(?) p.(Val140Glyfs*24) -
-?/. - c.420G>T likely benign r.(=) p.(=) -
-/. - c.420G>T benign r.(=) p.(=) -
./. - c.420G>T - r.(?) p.(=) -
+/+? - c.422G>A - r.(?) p.(Trp141*) -
./. - c.448+1G>C - r.spl? p.? -
+/. - c.448+1G>T pathogenic r.spl? p.? -
./. - c.448+2T>G - r.spl? p.? -
+/? - c.449-34dup - r.(?) p.? -
./. - c.(448+1_449-1)_(870+1_871-1)dup - r.? p.? -
-/. - c.473G>A benign r.(?) p.(Ser158Asn) -
./. - c.473G>A - r.(?) p.(Ser158Asn) -
./. - c.478G>C - r.(?) p.(Glu160Gln) -
./. - c.500C>T - r.(?) p.(Pro167Leu) -
./. - c.534A>G - r.(?) p.(=) -
./. - c.556+178G>T - r.(?) p.(=) -
?/. - c.556+534G>A VUS r.(=) p.(=) -
./. - c.557-672G>A - r.(?) p.(=) -
./. - c.557-672G>A - r.(?) p.(=) -
./. - c.557-672G>A - r.(?) p.(=) -
./. - c.557-672G>A - r.(?) p.(=) -
./. - c.557-668G>A - r.(?) p.(=) -
./. - c.557-668G>A - r.(?) p.(=) -
./. - c.557-668G>A - r.(?) p.(=) -
./. - c.557-668G>A - r.(?) p.(=) -
-/. - c.557-19T>C benign r.(=) p.(=) -
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