LOVD - Variant listings for CYP27A1

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Patient data (#0000033)
Disease Cerebrotendinous Xanthomatosis
Reference Verrips et al., 2000
Template -
Technique -

Variant data
Allele Maternal (inferred)
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 1
DNA change c.5_6insC   (View in UCSC Genome Browser, Ensembl)
DNA published -
Protein p.A2AfsX179
DB-ID CYP27A1_00001
Reference -

4 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
?/? Paternal (inferred) 1 c.5_6insC - p.A2AfsX179 CYP27A1_00001 -
?/? Maternal (inferred) 1 c.5_6insC - p.A2AfsX179 CYP27A1_00001 -
?/? Maternal (inferred) 6 c.1151C>T - p.P384L CYP27A1_00002 dbSNP
?/? Paternal (inferred) 6 c.1151C>T - p.P384L CYP27A1_00002 dbSNP