LOVD - Variant listings for CYP27A1

About this overview [Show]

Patient data (#0000125)
Disease Cerebrotendinous Xanthomatosis
Reference Chen et al., 2011
Template -
Technique -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 2
DNA change c.305delC   (View in UCSC Genome Browser, Ensembl)
DNA published -
Protein p.P102LfsX5
DB-ID CYP27A1_00007
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.305delC - p.P102LfsX5 CYP27A1_00007 -
?/? Unknown 2 c.409C>T - p.R137W CYP27A1_00018 dbSNP