Transcript #00005204

Transcript name transcript variant 2
Gene name CITED2 (Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2)
Chromosome 6
Transcript - NCBI ID NM_001168388.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001161860.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

10 entries on 1 page. Showing entries 1 - 10.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.117_119del likely benign r.(?) p.(His39del)
-?/. - c.117_119del likely benign r.(?) p.(His39del)
?/. - c.289C>T VUS r.(?) p.(Gln97*)
?/. - c.466T>G VUS r.(?) p.(Cys156Gly)
-?/. - c.542G>C likely benign r.(?) p.(Ser181Thr)
?/. - c.547_570del VUS r.(?) p.(Ser183_Ser190del)
-/. - c.580_585del benign r.(?) p.(Gly194_Gly195del)
-/. - c.582C>T benign r.(?) p.(=)
-?/. - c.593_598del likely benign r.(?) p.(Ser198_Gly199del)
?/. - c.593_598del VUS r.(?) p.(Ser198_Gly199del)
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