Transcript #00015935

Transcript name prenyl (decaprenyl) diphosphate synthase, subunit 1
Gene name PDSS1 (prenyl (decaprenyl) diphosphate synthase, subunit 1)
Chromosome 10
Transcript - NCBI ID NM_014317.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_055132.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

23 entries on 1 page. Showing entries 1 - 23.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.36C>T likely benign r.(?) p.(=)
-?/. - c.89G>T likely benign r.(?) p.(Gly30Val)
-/. - c.89G>T benign r.(?) p.(Gly30Val)
-?/. - c.106G>A likely benign r.(?) p.(Ala36Thr)
-?/. - c.124G>A likely benign r.(?) p.(Ala42Thr)
?/. - c.129+45C>G - r.(=) p.(=)
-/. - c.162+13A>G benign r.(=) p.(=)
-/. - c.162+59A>T - r.(=) p.(=)
-/. - c.163-5del benign r.spl? p.?
-/. - c.163-5del benign r.spl? p.?
-/. - c.337-66del benign r.(=) p.(=)
?/. - c.407T>G - r.(?) p.(Phe136Cys)
-?/. - c.589A>G likely benign r.(?) p.(Lys197Glu)
-?/. - c.589A>G likely benign r.(?) p.(Lys197Glu)
-/. - c.610-53A>G benign r.(=) p.(=)
?/. - c.686C>G VUS r.(?) p.(Ser229Cys)
?/. - c.760G>C VUS r.(?) p.(Glu254Gln)
?/. - c.1027-10_1027-6del VUS r.(=) p.(=)
?/. - c.1055G>A VUS r.(?) p.(Arg352Gln)
-/. - c.1107+42C>T benign r.(=) p.(=)
-/. - c.1108-9_1108-6dup benign r.(=) p.(=)
?/. - c.1138G>A VUS r.(?) p.(Ala380Thr)
?/. - c.*2210T>C VUS r.(=) p.(=)
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