Transcript #00000627

Transcript name transcript variant 1
Gene name CITED1 (Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1)
Chromosome X
Transcript - NCBI ID NM_004143.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_004134.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

12 entries on 1 page. Showing entries 1 - 12.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
./. - c.-192244_*398489dup - - -
-?/. - c.-66+1048C>T likely benign r.(=) p.(=)
-?/. - c.104C>T likely benign r.(?) p.(Ala35Val)
-?/. - c.217A>G likely benign r.(?) p.(Thr73Ala)
?/. - c.288C>G - - p.(His96Gln)
?/. 3 c.288C>G - r.(?) p.(His96Gln)
?/. - c.288C>G - - p.(His96Gln)
?/. - c.355G>C VUS r.(?) p.(Gly119Arg)
-?/. - c.441C>G likely benign r.(?) p.(Ile147Met)
-?/. - c.441C>G likely benign r.(?) p.(Ile147Met)
-?/. - c.506G>A likely benign r.(?) p.(Arg169Gln)
-?/. - c.557C>T likely benign r.(?) p.(Thr186Ile)
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