LOVD - Variant listings for CYP27A1

About this overview [Show]

Patient data (#0000046)
Disease Cerebrotendinous Xanthomatosis
Reference [Verrips et al., 2000]
Template -
Technique -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 2
DNA change c.379C>T   (View in UCSC Genome Browser, Ensembl)
DNA published -
Protein p.R127W
DB-ID CYP27A1_00010
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.379C>T - p.R127W CYP27A1_00010 dbSNP
?/? Unknown 6i c.1184+1G>A - - CYP27A1_00012 -