LOVD - Variant listings for CYP27A1

About this overview [Show]

Patient data (#0000084)
Disease Cerebrotendinous Xanthomatosis
Reference Verrips et al., 2000
Template -
Technique -

Variant data
Allele Maternal (inferred)
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 5
DNA change c.1016C>T   (View in UCSC Genome Browser, Ensembl)
DNA published -
Protein p.T339M
DB-ID CYP27A1_00011
Reference dbSNP

4 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
?/? Paternal (inferred) 5 c.1016C>T - p.T339M CYP27A1_00011 dbSNP
?/? Maternal (inferred) 5 c.1016C>T - p.T339M CYP27A1_00011 dbSNP
?/? Paternal (inferred) 8 c.1415G>C - p.G472A CYP27A1_00035 dbSNP
?/? Maternal (inferred) 8 c.1415G>C - p.G472A CYP27A1_00035 dbSNP