LOVD - Variant listings for CYP27A1

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Patient data (#0000137)
Disease Cerebrotendinous Xanthomatosis
Reference Suh et al., 2012
Template -
Technique -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 6
DNA change c.1146_1151delins
DNA published -
Protein p.H382QfsX26
DB-ID CYP27A1_00066
Reference -

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 6 c.1146_1151delins - p.H382QfsX26 CYP27A1_00066 -
?/? Unknown 7 c.1214G>A - p.R405Q CYP27A1_00043 dbSNP