LOVD - Variant listings for CYP27A1

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Patient data (#0000074)
Disease Cerebrotendinous Xanthomatosis
Reference Verrips et al., 1999
Template -
Technique -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 6
DNA change c.1183C>T   (View in UCSC Genome Browser, Ensembl)
DNA published -
Protein p.R395C
DB-ID CYP27A1_00004
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 4i c.844+1G>A - - CYP27A1_00033 -
?/? Unknown 6 c.1183C>T - p.R395C CYP27A1_00004 dbSNP