Gene: glutaryl-CoA dehydrogenase; GCDH


Gene Symbol: GCDH
OMIM: 608801
Chromosome location: 19p13.2

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Glutaricaciduria, type I || c.192G>T

Phenotype:    Glutaricaciduria, type I
Dna Change:    c.192G>T
Protein Change:    p.Glu64Asp
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 4
Transcript:    NM_000159.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
CyprusGreek CypriotNA5 patients/10 patientsNAGeorgiou T et al., 2014Georgiou T, Nicolaidou P, Hadjichristou A, Ioannou R, Dionysiou M, Siama E, Chappa G, Anastasiadou V, Drousiotou A, . Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.. Clin. Biochem.. 2014; 47(13):1300-5

Glutaricaciduria, type I || c.803G>T

Phenotype:    Glutaricaciduria, type I
Dna Change:    c.803G>T
Protein Change:    p.Gly268Val
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 8
Transcript:    NM_000159.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
CyprusGreek CypriotNA5 patients/10 patientsNAGeorgiou T et al., 2014Georgiou T, Nicolaidou P, Hadjichristou A, Ioannou R, Dionysiou M, Siama E, Chappa G, Anastasiadou V, Drousiotou A, . Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.. Clin. Biochem.. 2014; 47(13):1300-5

References

Georgiou T, Nicolaidou P, Hadjichristou A, Ioannou R, Dionysiou M, Siama E, Chappa G, Anastasiadou V, Drousiotou A, Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.Clin. Biochem.. 2014; 47(13):1300-5