LOVD - Variant listings for CYP27A1

About this overview [Show]

Patient data (#0000064)
Disease Cerebrotendinous Xanthomatosis
Reference Garuti et al., 1997
Template -
Technique -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 3
DNA change c.646G>C   (View in UCSC Genome Browser, Ensembl)
DNA published -
Protein p.A216P
DB-ID CYP27A1_00019
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 3 c.646G>C - p.A216P CYP27A1_00019 dbSNP
?/? Unknown 7i c.1263+5G>T - - CYP27A1_00026 -