Transcript #00009595

Transcript name transcript variant 1
Gene name HPD (4-hydroxyphenylpyruvate dioxygenase)
Chromosome 12
Transcript - NCBI ID NM_002150.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_002141.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

6 entries on 1 page. Showing entries 1 - 6.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.97A>G benign r.(?) p.(Thr33Ala)
+?/. - c.505dup likely pathogenic r.(?) p.(Leu169Profs*4)
-?/. - c.845G>A likely benign r.(?) p.(Arg282Lys)
?/. - c.881C>T VUS r.(?) p.(Thr294Met)
-?/. - c.955-4C>T likely benign r.spl? p.?
?/. - c.1005C>G VUS r.(?) p.(Ile335Met)
Legend