Transcript #00015907

Transcript name transcript variant 1
Gene name PDHB (pyruvate dehydrogenase (lipoamide) beta)
Chromosome 3
Transcript - NCBI ID NM_000925.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000916.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

9 entries on 1 page. Showing entries 1 - 9.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+?/. 1i c.42+1G>A - r.spl p.0?
-?/. - c.132T>C likely benign r.(?) p.(=)
-?/. - c.132T>C likely benign r.(?) p.(=)
-?/. - c.198A>G likely benign r.(?) p.(=)
+?/. 5 c.301A>G - r.301a>g p.Met101Val
-?/. - c.303+16T>C likely benign r.(=) p.(=)
-/. - c.435A>G benign r.(?) p.(=)
?/. - c.790G>A VUS r.(?) p.(Glu264Lys)
-/. - c.859A>G benign r.(?) p.(Asn287Asp)
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