Transcript #00015908 (NM_003477.2, PDHX gene)

Transcript name transcript variant 1
Gene name PDHX (pyruvate dehydrogenase complex, component X)
Chromosome 11
Transcript - NCBI ID NM_003477.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_003468.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

47 entries on 1 page. Showing entries 1 - 47.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-27855del r.(?) p.(=)
-/. - c.-302A>G r.(?) p.(=)
?/. - c.-277C>G r.(?) p.(=)
-/. - c.-272G>A r.(?) p.(=)
-?/. - c.-202A>G r.(?) p.(=)
-?/. - c.-165G>A r.(?) p.(=)
?/. - c.44G>A r.(?) p.(Arg15His)
-/. - c.63C>T r.(?) p.(Pro21=)
-/. - c.63C>T r.(?) p.(Pro21=)
?/. - c.82C>T r.(?) p.(Leu28=)
?/. - c.171T>G r.(?) p.(Ile57Met)
-?/. - c.241+3G>A r.spl? p.?
?/. - c.299_301dup r.(?) p.(Val100_Thr101insIle)
?/. - c.299_301dup r.(?) p.(Val100_Thr101insIle)
-/. - c.301A>G r.(?) p.(Thr101Ala)
-/. - c.301A>G r.(?) p.(Thr101Ala)
?/. - c.329T>C r.(?) p.(Leu110Ser)
?/. - c.342+1G>T r.spl? p.?
-?/. - c.411T>C r.(?) p.(Asp137=)
-?/. - c.411T>C r.(?) p.(Asp137=)
-?/. - c.474G>A r.(?) p.(Glu158=)
-?/. - c.526A>G r.(?) p.(Ile176Val)
-/. - c.566G>A r.(?) p.(Arg189His)
-?/. - c.577G>C r.(?) p.(Glu193Gln)
?/. - c.640G>C r.(?) p.(Glu214Gln)
-/. - c.641+4T>C r.spl? p.?
-/. - c.641+4T>C r.spl? p.?
+?/. - c.644A>G r.(?) p.(Asp215Gly)
+?/. - c.644A>G r.(?) p.(Asp215Gly)
?/. - c.644A>G r.(?) p.(Asp215Gly)
-?/. - c.674C>T r.(?) p.(Thr225Met)
?/. - c.674C>T r.(?) p.Thr225Met
?/. - c.674C>T r.(?) p.Thr225Met
-?/. - c.699A>G r.(?) p.(Pro233=)
-?/. - c.749C>T r.(?) p.(Thr250Ile)
-/. - c.858T>C r.(?) p.(Val286=)
-/. - c.858T>C r.(?) p.(Val286=)
?/. - c.976G>C r.(?) p.(Val326Leu)
-/. - c.1023+16C>G r.(=) p.(=)
-/. - c.1023+16C>G r.(=) p.(=)
?/. - c.1085A>C r.(?) p.Asp362Ala
?/. - c.1085A>C r.(?) p.Asp362Ala
?/. - c.1182+14_1182+17del r.(=) p.(=)
-?/. - c.1286C>G r.(?) p.(Thr429Ser)
-/. - c.1331G>A r.(?) p.(Arg444Lys)
-?/. - c.1462A>G r.(?) p.(Lys488Glu)
-?/. - c.1503C>T r.(?) p.(Ala501=)
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