LOVD - Variant listings for CYP27A1

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Patient data (#0000098)
Disease Cerebrotendinous Xanthomatosis
Reference Chen et al., 1998
Template -
Technique -

Variant data
Allele Maternal (inferred)
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 6
DNA change c.1183C>A   (View in UCSC Genome Browser, Ensembl)
DNA published -
Protein p.R395S
DB-ID CYP27A1_00041
Reference dbSNP

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
?/? Maternal (inferred) 6 c.1183C>A - p.R395S CYP27A1_00041 dbSNP
+/? Paternal (inferred) 6 c.1183C>A - p.R395S CYP27A1_00041 dbSNP