LOVD - Variant listings for CYP27A1

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Patient data (#0000117)
Disease Cerebrotendinous Xanthomatosis
Reference Federico et al., 2010
Template -
Technique -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 4
DNA change c.752C>A   (View in UCSC Genome Browser, Ensembl)
DNA published -
Protein p.S251X
DB-ID CYP27A1_00055
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 4 c.752C>A - p.S251X CYP27A1_00055 -
?/? Unknown 7i c.1263+5G>T - - CYP27A1_00026 -