Transcript #00024119

Transcript name transcript variant novex-3
Gene name TTN (titin)
Chromosome 2
Transcript - NCBI ID NM_133379.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_596870.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

394 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     
-/. - c.33G>A benign r.(=) p.(=)
-?/. - c.33G>A likely benign r.(=) p.(=)
-/. - c.178G>T benign r.(?) p.(Asp60Tyr)
-/. - c.178G>T benign 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.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.(=)
-?/. - c.426C>T likely benign r.(=) p.(=)
-/. - c.426C>T benign r.(=) p.(=)
-?/. - c.426C>T 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.593_595del VUS r.(?) p.(Glu198del)
?/. - c.617C>A VUS r.(?) p.(Thr206Lys)
?/. - c.617C>A VUS r.(?) p.(Thr206Lys)
-?/. - c.687T>C likely benign r.(=) p.(=)
-?/. - c.687T>C likely benign r.(=) p.(=)
?/. - c.835C>T VUS r.(?) p.(Arg279Trp)
?/. - c.835C>T VUS r.(?) p.(Arg279Trp)
-/. - c.970C>T benign r.(?) p.(Pro324Ser)
-/. - c.970C>T benign r.(?) p.(Pro324Ser)
-/. - 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.1089G>A benign r.(=) p.(=)
-?/. - c.1089G>A likely benign r.(=) p.(=)
-?/. - c.1245+20G>T likely benign r.(=) p.(=)
-?/. - c.1245+20G>T likely benign 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.(=)
?/. - c.1297G>A VUS r.(?) p.(Val433Ile)
?/. - c.1297G>A VUS r.(?) p.(Val433Ile)
?/. - c.1333G>A VUS r.(?) p.(Ala445Thr)
?/. - c.1333G>A VUS r.(?) p.(Ala445Thr)
-/. - c.1398+8C>T benign r.(=) p.(=)
-/. - c.1398+8C>T benign r.(=) p.(=)
-/. - c.1398+16C>T benign r.(=) p.(=)
-?/. - c.1398+16C>T likely benign r.(=) p.(=)
-/. - c.1398+16C>T benign r.(=) p.(=)
-?/. - c.1492G>A likely benign r.(?) p.(Val498Ile)
-/. - c.1492G>A benign r.(?) p.(Val498Ile)
-/. - c.1492G>A benign r.(?) p.(Val498Ile)
-/. - c.1492G>A benign r.(?) p.(Val498Ile)
-/. - c.1492G>A benign r.(?) p.(Val498Ile)
-?/. - c.1537-4G>A likely benign r.spl? p.?
-/. - c.1537-4G>A benign r.spl? p.?
-?/. - c.1560A>G likely benign r.(=) p.(=)
-/. - c.1560A>G benign r.(=) p.(=)
-/. - c.1920G>A benign r.(=) p.(=)
-?/. - c.1920G>A likely benign r.(=) p.(=)
-/. - c.1938+10G>C benign r.(=) p.(=)
-/. - c.1938+10G>C benign r.(=) p.(=)
-/. - c.1938+10G>C benign r.(=) p.(=)
-?/. - c.1938+10G>C likely benign r.(=) p.(=)
-/. - c.2244G>A benign r.(=) p.(=)
-/. - c.2244G>A benign r.(=) p.(=)
-?/. 14 c.2244G>A - r.(?) p.(Glu748=)
-/. - c.2244G>A benign r.(=) p.(=)
-/. - c.2270C>T benign r.(?) p.(Pro757Leu)
-/. - c.2270C>T benign r.(?) p.(Pro757Leu)
-/. - c.2432C>T benign r.(?) p.(Thr811Ile)
-?/. 15 c.2432C>T - r.(?) p.(Thr811Ile)
-/. - c.2432C>T benign r.(?) p.(Thr811Ile)
-/. - c.2432C>T benign r.(?) p.(Thr811Ile)
-/. - c.2781A>C benign r.(=) p.(=)
-/. - c.2781A>C benign r.(=) p.(=)
-?/. - c.2949C>T likely benign r.(=) p.(=)
-/. - c.2949C>T benign r.(=) p.(=)
-/. - c.2949C>T benign r.(=) p.(=)
?/. - c.3071T>G VUS r.(?) p.(Val1024Gly)
?/. - c.3071T>G VUS r.(?) p.(Val1024Gly)
-/. - c.3087T>C benign r.(=) p.(=)
-/. - c.3087T>C benign r.(=) p.(=)
-?/. - c.3241G>A likely benign r.(?) p.(Ala1081Thr)
-?/. - c.3241G>A likely benign r.(?) p.(Ala1081Thr)
-?/. - c.3241G>A likely benign r.(?) p.(Ala1081Thr)
-/. - c.3380+9A>G benign r.(=) p.(=)
-/. - c.3380+9A>G benign r.(=) p.(=)
-/. - c.3601A>G benign r.(?) p.(Lys1201Glu)
-/. - c.3601A>G benign r.(?) p.(Lys1201Glu)
-/. - c.3601A>G benign r.(?) p.(Lys1201Glu)
-/. - c.3601A>G benign r.(?) p.(Lys1201Glu)
-/. - c.3668C>T benign r.(?) p.(Ala1223Val)
-/. - c.3668C>T benign r.(?) p.(Ala1223Val)
-/. - c.3759A>G benign r.(=) p.(=)
-/. - c.3759A>G benign r.(=) p.(=)
-/. - c.3884C>T benign r.(?) p.(Ser1295Leu)
-/. - c.3884C>T benign r.(?) p.(Ser1295Leu)
-/. - c.3884C>T benign r.(?) p.(Ser1295Leu)
-/. - c.3884C>T benign r.(?) p.(Ser1295Leu)
-/. - c.3993C>T benign r.(=) p.(=)
-/. - c.3993C>T benign r.(=) p.(=)
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