Transcript #00013799

Transcript name myeloperoxidase
Gene name MPO (myeloperoxidase)
Chromosome 17
Transcript - NCBI ID NM_000250.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_000241.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

15 entries on 1 page. Showing entries 1 - 15.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.157G>T benign r.(?) p.(Val53Phe)
+/. - c.518A>G pathogenic r.(?) p.(Tyr173Cys)
?/. - c.608A>C VUS r.(?) p.(Tyr203Ser)
+/. - c.752T>C - r.(?) p.(Met251Thr)
+/. - c.995C>T pathogenic r.(?) p.(Ala332Val)
+/. - c.995C>T - r.(?) p.(Ala332Val)
-?/. - c.1365+7C>T likely benign r.(=) p.(=)
+/. - c.1705C>T pathogenic r.(?) p.(Arg569Trp)
+/. - c.1705C>T pathogenic r.(?) p.(Arg569Trp)
-/. - c.2031-6A>C benign r.(=) p.(=)
./. - c.2031-2A>C - r.spl? p.?
+/. - c.2031-2A>C pathogenic r.spl? p.?
-/. - c.2133C>T benign r.(=) p.(=)
-/. - c.2149A>G benign r.(?) p.(Ile717Val)
./. - c.2174G>A - r.(?) p.(Arg725Gln)
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