LOVD - Variant listings for CYP27A1

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Patient data (#0000037)
Disease Cerebrotendinous Xanthomatosis
Reference Lee et al., 2001
Template -
Technique -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 1
DNA change c.11_21del   (View in UCSC Genome Browser, Ensembl)
DNA published -
Protein p.L4RfsX3
DB-ID CYP27A1_00005
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.11_21del - p.L4RfsX3 CYP27A1_00005 -
?/? Unknown 8 c.1435C>T - p.R479C CYP27A1_00006 dbSNP