Transcript #00007314

Transcript name exosome component 6
Gene name EXOSC6 (exosome component 6)
Chromosome 16
Transcript - NCBI ID NM_058219.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_478126.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

24 entries on 1 page. Showing entries 1 - 24.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-3929C>T likely benign r.(?) p.(=)
-?/. - c.-3929C>T likely benign r.(?) p.(=)
-?/. - c.-3897C>T likely benign r.(?) p.(=)
+?/. - c.-3863A>G likely pathogenic r.(?) p.(=)
-?/. - c.-2757C>G likely benign r.(?) p.(=)
-?/. - c.-2080A>G likely benign r.(?) p.(=)
-?/. - c.-1903C>T likely benign r.(?) p.(=)
-?/. - c.-1903C>T likely benign r.(?) p.(=)
-?/. - c.-1903C>T likely benign r.(?) p.(=)
?/. - c.-1900G>A VUS r.(?) p.(=)
-?/. - c.-1841G>A likely benign r.(?) p.(=)
-?/. - c.-1408A>G likely benign r.(?) p.(=)
-/. - c.-1374T>C benign r.(?) p.(=)
-/. - c.-1374T>C benign r.(?) p.(=)
-?/. - c.-1373C>G likely benign r.(?) p.(=)
-?/. - c.-937G>A likely benign r.(?) p.(=)
-?/. - c.-937G>A likely benign r.(?) p.(=)
-?/. - c.-937G>A likely benign r.(?) p.(=)
-/. - c.-828A>T benign r.(?) p.(=)
-?/. - c.-828A>T likely benign r.(?) p.(=)
-?/. - c.-828A>T likely benign r.(?) p.(=)
-?/. - c.28G>T likely benign r.(?) p.(Gly10Cys)
?/. - c.404G>A VUS r.(?) p.(Arg135His)
?/. - c.404G>C VUS r.(?) p.(Arg135Pro)
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