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

36 entries on 1 page. Showing entries 1 - 36.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     
-?/. 14 c.2244G>A - r.(?) p.(Glu748=)
-?/. 15 c.2432C>T - r.(?) p.(Thr811Ile)
+/. 37 c.8687C>T - r.(?) p.(Thr2896Ile)
-?/. - c.10443delA - r.(?) p.(Lys3481Asnfs*36)
-?/. - c.13022C>G - r.(?) p.(Ser4341*)
-?/. - c.13410dup - r.(?) p.(Gly4471Argfs*14)
-?/. - c.13660dup - r.(?) p.(Ile4554Asnfs*6)
-?/. - c.13705G>T - r.(?) p.(Glu4569*)
-?/. - c.13939delG - r.(?) p.(Glu4647Lysfs*54)
-?/. - c.14460_14470dup - r.(?) p.(Arg4824Thrfs*9)
-?/. - c.15305delC - r.(?) p.(Thr5102Ilefs*2)
-?/. - c.16516G>T - r.(?) p.(Glu5506*)
-?/. - c.16516G>T - r.(?) p.(Glu5506*)
-?/. - c.16516G>T - r.(?) p.(Glu5506*)
-?/. - c.16529delT - r.(?) p.(Val5510Glyfs*18)
./. - c.*6318C>T - r.(=) p.(=)
./. - c.*7377C>T - r.(=) p.(=)
./. - c.*17721G>A - r.(=) p.(=)
./. - c.*34951G>T - r.(=) p.(=)
-?/. - c.*56007G>A - r.(?) p.(=)
-?/. - c.*86944C>T - r.(?) p.(=)
./. - c.*109902C>T - r.(=) p.(=)
-?/. - c.*124393C>T - r.(?) p.(=)
./. - c.*151125_*151126del - r.(=) p.(=)
./. - c.*165958_*165961del - r.(=) p.(=)
./. - c.*165958_*165961del - r.(=) p.(=)
./. - c.*169429G>T - r.(=) p.(=)
-?/. - c.*170283C>T - r.(=) p.(=)
./. - c.*170779G>T - r.(=) p.(=)
./. - c.*170779G>T - r.(=) p.(=)
./. - c.*203322G>C - r.(=) p.(=)
+?/. - c.*212330delG - r.(=) p.(=)
+?/. - c.*213079dupT - r.(=) p.(=)
./. - c.*215467A>G - r.(=) p.(=)
?/. - c.*218094C>T - r.(=) p.(=)
+?/. - c.*218094C>T - r.(=) p.(=)
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