Gene: cytochrome P450, family 27, subfamily A, polypeptide 1; CYP27A1


Gene Symbol: CYP27A1
OMIM: 606530
Chromosome location: 2q35

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Cerebrotendinous xanthomatosis || c.1183C>T

Phenotype:    Cerebrotendinous xanthomatosis
Dna Change:    c.1183C>T
Protein Change:    p.Arg395Cys
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 6
Transcript:    NM_000784.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNANA33%NAPilo-de-la-Fuente B et al., 2011Pilo-de-la-Fuente B, Jimenez-Escrig A, Lorenzo JR, Pardo J, Arias M, Ares-Luque A, Duarte J, Muñiz-Pérez S, Sobrido MJ, . Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.. Eur. J. Neurol.. 2011; 18(10):1203-11

References

Pilo-de-la-Fuente B, Jimenez-Escrig A, Lorenzo JR, Pardo J, Arias M, Ares-Luque A, Duarte J, Muñiz-Pérez S, Sobrido MJ, Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.Eur. J. Neurol.. 2011; 18(10):1203-11