Transcript #00006113

Transcript name dopamine beta-hydroxylase (dopamine beta-monooxygenase)
Gene name DBH (dopamine beta-hydroxylase (dopamine beta-monooxygenase))
Chromosome 9
Transcript - NCBI ID NM_000787.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000778.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

19 entries on 1 page. Showing entries 1 - 19.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.275G>A VUS r.(?) p.(Arg92His)
+/. - c.339+2T>C pathogenic r.spl? p.?
+?/. - c.339+2T>C likely pathogenic r.spl? p.?
-?/. - c.354C>T likely benign r.(?) p.(=)
-/. - c.486A>G benign r.(?) p.(=)
-/. - c.486A>G benign r.(?) p.(=)
-/. - c.486+13C>T benign r.(=) p.(=)
-?/. - c.553G>A likely benign r.(?) p.(Gly185Ser)
-?/. - c.744+8C>T likely benign r.(=) p.(=)
-?/. - c.744+8C>T likely benign r.(=) p.(=)
-/. - c.952G>T benign r.(?) p.(Ala318Ser)
-/. - c.1024+6C>G benign r.(=) p.(=)
-/. - c.1024+9C>T benign r.(=) p.(=)
+/. - c.1033G>A pathogenic r.(?) p.(Asp345Asn)
-/. - c.1410A>G benign r.(?) p.(=)
?/. - c.1528G>A VUS r.(?) p.(Gly510Ser)
-?/. - c.1563-5A>G likely benign r.spl? p.?
?/. - c.1688T>C VUS r.(?) p.(Met563Thr)
-?/. - c.*100C>T likely benign r.(=) p.(=)
Legend