LOVD CYP27A1 homepage

General information
Gene name Sterol 27-hydroxylase
Gene symbol CYP27A1
Chromosome Location 2q33-qter
Database location Grupo de Medicina XenĂ³mica
Curator Pablo Sierra
PubMed references View all (unique) PubMed references in the CYP27A1 database
Date of creation June 10, 2009
Last update June 09, 2013
Version CYP27A1 130609
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_007959.1
Transcript refseq ID NM_000784.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 69
Total number of individuals with variant(s) 102
Total number of variants reported 211
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the CYP27A1 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the CYP27A1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the CYP27A1 database
Variants with no known pathogenicity Listing of all CYP27A1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
HGNC 2605
Entrez Gene 1593
OMIM - Gene 606530
OMIM - Disease Cerebrotendinous Xanthomatosis (CTX)
UniProtKB (SwissProt/TrEMBL) Q96T86
External link Orphanet