LOVD - Variant listings for CYP27A1

About this overview [Show]

Patient data (#0000048)
Disease Cerebrotendinous Xanthomatosis
Reference Watts et al., 1996
Template -
Technique -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 5
DNA change c.850A>T   (View in UCSC Genome Browser, Ensembl)
DNA published -
Protein p.K284X
DB-ID CYP27A1_00014
Reference dbSNP

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.380G>A - p.R127Q CYP27A1_00013 -
?/? Unknown 5 c.850A>T - p.K284X CYP27A1_00014 dbSNP