Transcript #00021599

Transcript name transcript variant 1
Gene name TNNT3 (troponin T type 3 (skeletal, fast))
Chromosome 11
Transcript - NCBI ID NM_006757.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_006748.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

33 entries on 1 page. Showing entries 1 - 33.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. 1i c.-18-482G>A - r.(?) p.(=)
?/. 1i c.-18-379C>A - r.(?) p.(=)
?/. 2i c.18-76A>G - r.(?) p.(=)
?/. 3i c.32-149A>T - r.(?) p.(=)
?/. - c.50-9G>A ACMG: 3 r.(?) p.?
+/. 10 c.187C>A - r.(?) p.(Arg63Ser)
+/. - c.187C>T pathogenic r.(?) p.(Arg63Cys)
+/. 10 c.187C>T - r.(?) p.(Arg63Cys)
+/. 10 c.187C>T - r.(?) p.(Arg63Cys)
+/. 10 c.187C>T - r.(?) p.(Arg63Cys)
+/. - c.188G>A pathogenic r.(?) p.(Arg63His)
+/. 10 c.188G>A - r.(?) p.(Arg63His)
+/. - c.188G>A pathogenic r.(?) p.(Arg63His)
+/. 10 c.188G>A - r.(?) p.(Arg63His)
+/. 10 c.188G>A - r.(?) p.(Arg63His)
+/. 10 c.188G>A - r.(?) p.(Arg63His)
+/. 10 c.188G>A - r.(?) p.(Arg63His)
+/. 10 c.188G>A - r.(?) p.(Arg63His)
+/. 10 c.188G>A - r.(?) p.(Arg63His)
+/. 10 c.188G>A - r.(?) p.(Arg63His)
+/. 10 c.188G>A - r.(?) p.(Arg63His)
+/. 10 c.188G>A - r.(?) p.(Arg63His)
?/. 11 c.328C>T - r.(?) p.(Arg110Cys)
-/. - c.367-16A>G benign r.(=) p.(=)
-/. - c.367-9T>C benign r.(=) p.(=)
?/. 12 c.414G>A - r.(?) p.(Glu138=)
?/. 14 c.636T>C - r.(?) p.(Ile212=)
-/. - c.636T>C benign r.(?) p.(=)
+/. 14i c.681+1G>A - r.spl p.0?
-?/. - c.723-15G>C likely benign r.(=) p.(=)
?/. 16 c.762C>T - r.(?) p.(Gly254=)
-/. - c.762C>T benign r.(?) p.(=)
-/. - c.762C>T benign r.(?) p.(=)
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