LOVD - Variant listings for CYP27A1

About this overview [Show]

Patient data (#0000051)
Disease Cerebrotendinous Xanthomatosis
Reference Lee et al., 2001
Template -
Technique -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 2
DNA change c.399G>A   (View in UCSC Genome Browser, Ensembl)
DNA published -
Protein p.W133X
DB-ID CYP27A1_00016
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 2 c.399G>A - p.W133X CYP27A1_00016 -
?/? Unknown 6 c.1184G>A - p.R395H CYP27A1_00017 -