LOVD - Variant listings for CYP27A1

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Patient data (#0000136)
Disease Cerebrotendinous Xanthomatosis
Reference De la Fuente et al., 2011
Template -
Technique -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 6
DNA change c.1028C>G   (View in UCSC Genome Browser, Ensembl)
DNA published -
Protein p.T343R
DB-ID CYP27A1_00065
Reference -

2 entries in CYP27A1

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
DNA published Descending
Ascending
Protein Descending
Ascending
DB-ID Descending
Ascending
Reference Descending
Ascending
?/? Unknown 6 c.1028C>G - p.T343R CYP27A1_00065 -
?/? Unknown 7 c.1213C>T - p.R405W CYP27A1_00047 -