Transcript #00001778

Transcript name transcript variant IC
Gene name TTN (titin)
Chromosome 2
Transcript - NCBI ID NM_001267550.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001254479.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

5812 entries on 59 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. 18 c.(2927_2928)G>A - r.(=) p.(Trp976Arg)
-/. 43i c.10115-1712AC[(16_18)] - r.(?) p.(=)
-/. 61i c.17740+64A[(10_11)] - r.(=) p.(=)
-/. 93i c.26762-40TTTTG[(5_9)] - r.(=) p.(=)
-/. 111i c.30598+153A[(11_12)] - r.(=) p.(=)
-/. 128i c.32312-540A[(22_25)] - r.(=) p.(=)
-/. 20i c.3380+283AC[(12_13)] - r.(=) p.(=)
-/. 147i c.34292-74AT[(13_16)] - r.(=) p.(=)
-/. 37i c.8902+14TA[(8_9)] - r.(=) p.(=)
?/. ? c.? - r.? p.?
-/. - c.33G>A benign r.(=) p.(=)
-?/. - c.33G>A likely benign r.(=) p.(=)
?/. 2i c.91+5G>A - r.(spl?) p.(?)
-/. - c.92-21T>C benign r.(=) p.(=)
-/. - c.156C>T benign r.(=) p.(=)
+?/. 3 c.160G>A - - p.Val54Met
+/. 3 c.160G>A - r.(?) p.(Val54Met)
-/. - c.178G>T benign r.(?) p.(Asp60Tyr)
-/. - c.178G>T benign r.(?) p.(Asp60Tyr)
-?/. 3 c.178G>T - r.(?) p.(Asp60Tyr)
-/. - c.178G>T benign r.(?) p.(Asp60Tyr)
-?/. - c.180T>C likely benign r.(=) p.(=)
-?/. - c.180T>C likely benign r.(=) p.(=)
?/. - c.245C>A VUS r.(?) p.(Ala82Asp)
?/. - c.261del VUS r.(?) p.(Gln88Lysfs*10)
?/. - c.289G>A VUS r.(?) p.(Val97Met)
-/. - c.296-14T>C benign r.(=) p.(=)
-?/. - c.296-14T>C likely benign r.(=) p.(=)
-/. - c.296-14T>C benign r.(=) p.(=)
-/. - c.296-14T>C benign r.(=) p.(=)
?/? 3i c.296-14T>C - r.(?) p.(=)
+?/. 4 c.325C>T - r.(?) p.(Arg109*)
?/. - c.343G>A VUS r.(?) p.(Val115Met)
?/. 4 c.343G>A - r.(?) p.(Val115Met)
?/. 4 c.426C>T - r.(?) p.(=)
-?/. - c.426C>T likely benign r.(=) p.(=)
-/. - c.426C>T benign r.(=) p.(=)
-?/. - c.426C>T likely benign r.(=) p.(=)
?/. - c.437G>A VUS r.(?) p.(Ser146Asn)
-?/. - c.516G>A likely benign r.(=) p.(=)
-/. - c.542G>A benign r.(?) p.(Ser181Asn)
-/. - c.542G>A benign r.(?) p.(Ser181Asn)
-?/. - c.542G>A likely benign r.(?) p.(Ser181Asn)
-/. - c.583+15T>C benign r.(=) p.(=)
-?/. - c.583+17G>C likely benign r.(=) p.(=)
-?/. - c.593_595del likely benign r.(?) p.(Glu198del)
?/. - c.593_595del VUS r.(?) p.(Glu198del)
?/. - c.617C>A VUS r.(?) p.(Thr206Lys)
?/. - c.617C>A VUS r.(?) p.(Thr206Lys)
-/. - c.654A>G benign r.(=) p.(=)
+?/. - c.654_655delinsG likely pathogenic r.(?) p.(Thr219Profs*23)
?/. - c.659G>A VUS r.(?) p.(Arg220Gln)
?/. - c.680C>T VUS r.(?) p.(Ala227Val)
-?/. - c.687T>C likely benign r.(=) p.(=)
-?/. - c.687T>C likely benign r.(=) p.(=)
?/. - c.752A>G VUS r.(?) p.(His251Arg)
?/. 6 c.755A>G - r.(?) p.(Lys252Arg)
?/. 6 c.765_776del - r.(?) p.(Arg256_Pro259del)
?/. - c.776C>T VUS r.(?) p.(Pro259Leu)
?/? 6 c.776C>T - r.(?) p.(Pro259Leu)
-?/. - c.777G>A likely benign r.(=) p.(=)
?/-? 6 c.835C>T - r.(?) p.(Arg279Trp)
?/. - c.835C>T VUS r.(?) p.(Arg279Trp)
?/. - c.835C>T VUS r.(?) p.(Arg279Trp)
?/. - c.910G>A VUS r.(?) p.(Val304Ile)
-/. - c.970C>T benign r.(?) p.(Pro324Ser)
-/. - c.970C>T benign r.(?) p.(Pro324Ser)
-/. 7 c.982C>T - r.(?) p.(Arg328Cys)
-/. 7 c.982C>T - r.(?) p.(Arg328Cys)
?/. - c.997T>A VUS r.(?) p.(Ser333Thr)
-/. - c.1003G>A benign r.(?) p.(Val335Met)
-/. - c.1003G>A benign r.(?) p.(Val335Met)
-/. - c.1050C>T benign r.(=) p.(=)
-?/. - c.1050C>T likely benign r.(=) p.(=)
-/. - c.1068G>A benign r.(=) p.(=)
?/. 7 c.1079G>C - r.(?) p.(Arg360Thr)
-/. - c.1089G>A benign r.(=) p.(=)
-?/. - c.1089G>A likely benign r.(=) p.(=)
?/. - c.1099T>C VUS r.(?) p.(Ser367Pro)
?/. 7 c.1137A>G - r.(?) p.(=)
?/. - c.1168G>A VUS r.(?) p.(Gly390Ser)
?/. - c.1182_1185inv VUS r.(=) p.(=)
-/. - c.1213G>A benign r.(?) p.(Ala405Thr)
?/. 7 c.1221G>A - r.(?) p.(Glu407=)
?/. - c.1245+3A>G VUS r.spl? p.?
+?/. 7i c.1245+3A>G - r.spl? p.?
-?/. - c.1245+20G>T likely benign r.(=) p.(=)
-?/. - c.1245+20G>T likely benign r.(=) p.(=)
-?/. 7i c.1246-49C>G - r.(?) p.(=)
-?/. - c.1246-16G>A likely benign r.(=) p.(=)
-?/. - c.1246-16G>A likely benign r.(=) p.(=)
-/. - c.1246-16G>A benign r.(=) p.(=)
-?/. - c.1246-16G>A likely benign r.(=) p.(=)
?/. 7i c.1246-3delT - r.(spl?) p.(=)
?/. - c.1292C>T VUS r.(?) p.(Ala431Val)
?/. - c.1297G>A VUS r.(?) p.(Val433Ile)
?/. - c.1297G>A VUS r.(?) p.(Val433Ile)
?/. - c.1324G>A VUS r.(?) p.(Val442Met)
?/. - c.1333G>A VUS r.(?) p.(Ala445Thr)
?/. - c.1333G>A VUS r.(?) p.(Ala445Thr)
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