Transcript #00000045 (NM_000159.3, GCDH gene)

Transcript name transcript variant 1
Gene name GCDH (glutaryl-CoA dehydrogenase)
Chromosome 19
Transcript - NCBI ID NM_000159.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000150.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

11 entries on 1 page. Showing entries 1 - 11.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
?/. 4 c.227A>C - r.(?) p.(Gln76Pro) - ClinVar
+/. - c.382C>T - r.(?) p.(Arg128*) - ClinVar
+/. 6 c.392A>T - r.(?) p.(Glu131Val) - -
+/. 9 c.892G>A - r.(?) p.(Ala298Thr) - ClinVar
./. 10 c.1060G>A - r.(?) p.(Gly354Ser) - ClinVar
./. - c.1063C>T - r.(?) p.(Arg355Cys) - ClinVar
+/. 11 c.1157G>A - r.(?) p.(Arg386Gln) - -
+/. - c.1168G>T - r.(?) p.(Gly390Trp) - -
+/. 11i c.1244-2A>C - r.spl? p.? - ClinVar
+/. 11i c.1244-2A>C - r.spl? p.? - ClinVar
?/. - c.1261G>A - r.(?) p.(Ala421Thr) - ClinVar
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