Transcript #00016878

Transcript name transcript variant 1
Gene name PRODH (proline dehydrogenase (oxidase) 1)
Chromosome 22
Transcript - NCBI ID NM_016335.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_057419.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

49 entries on 1 page. Showing entries 1 - 49.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
./. - c.-2906700_*61401dup - r.? p.?
./. - c.-2540257_*7125del - - -
./. - c.-2540257_*11649del - r.0? p.0?
-/. - c.56C>A benign r.(?) p.(Pro19Gln)
?/. - c.130_156del VUS r.(?) p.(Thr44_Ala52del)
-/. - c.553T>C benign r.(?) p.(Trp185Arg)
?/. - c.578G>A VUS r.(?) p.(Gly193Asp)
-/. - c.668-64G>C benign r.(=) p.(=)
?/. - c.703C>T VUS r.(?) p.(Leu235Phe)
-/. - c.733-5del benign r.spl? p.?
?/. - c.772T>G VUS r.(?) p.(Phe258Val)
?/. - c.865T>A VUS r.(?) p.(Leu289Met)
+/. - c.930-1G>C pathogenic r.spl? p.?
-/. - c.991T>C benign r.(?) p.(=)
?/. - c.1093G>T VUS r.(?) p.(Val365Phe)
-/. - c.1105-14C>T benign r.(=) p.(=)
?/. - c.1163C>T VUS r.(?) p.(Pro388Leu)
-/. - c.1278C>T benign r.(?) p.(=)
-?/. - c.1292G>A likely benign r.(?) p.(Arg431His)
?/. - c.1322T>C VUS r.(?) p.(Leu441Pro)
?/. - c.1322T>C VUS r.(?) p.(Leu441Pro)
+/. - c.1357C>T pathogenic r.(?) p.(Arg453Cys)
?/. - c.1357C>T VUS r.(?) p.(Arg453Cys)
+/. - c.1357C>T - r.(?) p.(Arg453Cys)
-/. - c.1397C>T benign r.(?) p.(Thr466Met)
-?/. - c.1445T>C likely benign r.(?) p.(Leu482Ser)
-?/. - c.1459C>T likely benign r.(?) p.(His487Tyr)
-?/. - c.1463A>G likely benign r.(?) p.(Asn488Ser)
-/. - c.1515T>C benign r.(?) p.(=)
-/. - c.1562G>A benign r.(?) p.(Arg521Gln)
+/. 14 c.1562G>A - r.(?) p.(Arg521Gln)
-?/. - c.1616-9C>T likely benign r.(=) p.(=)
?/. - c.1687C>T VUS r.(?) p.(Arg563Cys)
-?/. - c.1727A>G likely benign r.(?) p.(His576Arg)
-/. - c.1741C>T benign r.(?) p.(=)
-/. - c.*19T>C benign r.(=) p.(=)
-?/. - c.*1500G>C likely benign r.(=) p.(=)
-?/. - c.*1520T>A likely benign r.(=) p.(=)
-?/. - c.*2157G>A likely benign r.(=) p.(=)
-?/. - c.*2220C>T likely benign r.(=) p.(=)
-?/. - c.*2268C>T likely benign r.(=) p.(=)
-?/. - c.*2274C>T likely benign r.(=) p.(=)
-?/. - c.*2275G>A likely benign r.(=) p.(=)
?/. - c.*2285C>T VUS r.(=) p.(=)
-?/. - c.*2293G>A likely benign r.(=) p.(=)
?/. - c.*2917G>A VUS r.(=) p.(=)
-?/. - c.*2925G>A likely benign r.(=) p.(=)
-?/. - c.*2932G>C likely benign r.(=) p.(=)
-?/. - c.*2932G>T likely benign r.(=) p.(=)
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