Transcript #00020710

Transcript name transcript variant 2
Gene name TAF1C (TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa)
Chromosome 16
Transcript - NCBI ID NM_139353.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_647610.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

44 entries on 1 page. Showing entries 1 - 44.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.934C>G VUS r.(?) p.(Arg312Gly)
?/. - c.971C>T VUS r.(?) p.(Pro324Leu)
?/. - c.990T>C VUS r.(?) p.(=)
?/. - c.1213C>T VUS r.(?) p.(Arg405Trp)
-?/. - c.1517G>A likely benign r.(?) p.(Arg506His)
-?/. - c.1559C>T likely benign r.(?) p.(Pro520Leu)
?/. - c.1626_1638del VUS r.(?) p.(Cys542*)
-/. - c.*1082A>G benign r.(=) p.(=)
?/. - c.*1140G>A VUS r.(=) p.(=)
-/. - c.*1144G>C benign r.(=) p.(=)
-/. - c.*1169T>C benign r.(=) p.(=)
-/. - c.*2683C>G benign r.(=) p.(=)
-/. - c.*2731A>G benign r.(=) p.(=)
-/. - c.*2732G>C benign r.(=) p.(=)
-/. - c.*2809A>G benign r.(=) p.(=)
-/. - c.*2859C>T benign r.(=) p.(=)
-/. - c.*2913G>C benign r.(=) p.(=)
-/. - c.*2913G>C benign r.(=) p.(=)
-?/. - c.*2938G>A likely benign r.(=) p.(=)
-/. - c.*4212C>A benign r.(=) p.(=)
?/. - c.*4218C>T VUS r.(=) p.(=)
-?/. - c.*6643C>T likely benign r.(=) p.(=)
+/. - c.*8583A>G pathogenic r.(=) p.(=)
+?/. - c.*8583A>G likely pathogenic r.(=) p.(=)
-/. - c.*8608G>A benign r.(=) p.(=)
?/. - c.*8650_*8727del VUS r.(=) p.(=)
-?/. - c.*8763C>T likely benign r.(=) p.(=)
-/. - c.*8810C>T benign r.(=) p.(=)
-?/. - c.*8814G>T likely benign r.(=) p.(=)
-/. - c.*8817C>G benign r.(=) p.(=)
-/. - c.*8817C>G benign r.(=) p.(=)
-?/. - c.*8868G>C likely benign r.(=) p.(=)
-/. - c.*8935T>C benign r.(=) p.(=)
-/. - c.*8952G>C benign r.(=) p.(=)
-/. - c.*9036C>T benign r.(=) p.(=)
-?/. - c.*9087T>A likely benign r.(=) p.(=)
-?/. - c.*9087T>A likely benign r.(=) p.(=)
-?/. - c.*13034G>T likely benign r.(=) p.(=)
-?/. - c.*13103G>C likely benign r.(=) p.(=)
-?/. - c.*19229C>G likely benign r.(=) p.(=)
?/. - c.*19244G>C VUS r.(=) p.(=)
?/. - c.*24172G>C VUS r.(=) p.(=)
?/. - c.*24323C>T VUS r.(=) p.(=)
-/. - c.*28583C>G benign r.(=) p.(=)
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