LOVD - Variant listings for CYP27A1

About this overview [Show]

Patient data (#0000140)
Disease Cerebrotendinous Xanthomatosis
Reference Chile:Santiago
Template RNA
Technique RT-PCR
Submitter Susan V Smalley

Variant data
Allele Parent #1
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 1i
DNA change c.256-1G>T   (View in UCSC Genome Browser, Ensembl)
DNA published -
Protein -
DB-ID CYP27A1_00069
Reference -

3 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
+?/? Parent #1 1i c.256-1G>T - - CYP27A1_00069 -
+?/? Paternal (inferred) 6i c.1185-1G>A - p.L396PfsX28 CYP27A1_00068 -
+?/? Maternal (inferred) 6i c.1185-1G>A - p.L396PfsX28 CYP27A1_00068 -