LOVD - Variant listings for CYP27A1

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Patient data (#0000124)
Disease Cerebrotendinous Xanthomatosis
Reference Tian et al., 2011
Template -
Technique -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 2
DNA change c.369_375delGTACCCA   (View in UCSC Genome Browser, Ensembl)
DNA published -
Protein p.K123KfsX19
DB-ID CYP27A1_00061
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 1 c.73delG - p.A25PfsX32 CYP27A1_00060 -
?/? Unknown 2 c.369_375delGTACCCA - p.K123KfsX19 CYP27A1_00061 -