Transcript #00024122

Transcript name transcript variant 1
Gene name TSFM (Ts translation elongation factor, mitochondrial)
Chromosome 12
Transcript - NCBI ID NM_001172696.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001166167.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

9 entries on 1 page. Showing entries 1 - 9.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.30T>C benign r.(?) p.(=)
?/. - c.271T>G VUS r.(?) p.(Trp91Gly)
+?/. - c.399del likely pathogenic r.(?) p.(Lys133Asnfs*9)
+?/. 7 c.782G>C - r.(?) p.(Cys261Ser)
?/. 7 c.919C>T - r.(?) p.(Gln307*)
+?/. 7 c.971_972del - r.(?) p.(Gln324Argfs*11)
+?/. - c.973G>T likely pathogenic r.(?) p.(Gly325Trp)
+/. 7 c.*19C>T - r.(?) p.(=)
?/. - c.*6750C>T VUS r.(=) p.(=)
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