Transcript #00022269

Transcript name transcript variant 3
Gene name UBE3B (ubiquitin protein ligase E3B)
Chromosome 12
Transcript - NCBI ID NM_183415.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_904324.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

18 entries on 1 page. Showing entries 1 - 18.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-128+360C>G benign r.(=) p.(=)
-/. - c.447+5C>A benign r.spl? p.?
?/. - c.447+5_447+12del VUS r.spl? p.?
-/. - c.447+11_447+28dup benign r.(=) p.(=)
?/. - c.447+15_447+28dup VUS r.(=) p.(=)
-?/. - c.447+19_447+28dup likely benign r.(=) p.(=)
-?/. - c.447+21_447+28del likely benign r.(=) p.(=)
?/. - c.730C>T VUS r.(?) p.(Gln244*)
+?/. - c.730C>T likely pathogenic r.(?) p.(Gln244*)
-?/. - c.1017C>G likely benign r.(?) p.(=)
-/. - c.1037G>A benign r.(?) p.(Arg346Gln)
?/. - c.1156C>G VUS r.(?) p.(Gln386Glu)
-?/. - c.1410G>A likely benign r.(?) p.(=)
?/. - c.1609C>T VUS r.(?) p.(Arg537Trp)
-?/. - c.2085C>T likely benign r.(?) p.(=)
-?/. - c.2428A>G likely benign r.(?) p.(Ser810Gly)
-?/. - c.2725C>T likely benign r.(?) p.(Pro909Ser)
?/. - c.3065G>A VUS r.(?) p.(Arg1022His)
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