LOVD - Variant listings for CYP27A1

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Patient data (#0000042)
Disease Cerebrotendinous Xanthomatosis
Reference Leitersdorf et al., 1994
Template -
Technique -

Variant data
Allele Maternal (inferred)
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 2
DNA change c.355delC   (View in UCSC Genome Browser, Ensembl)
DNA published Deletion of Cytosine 376
Protein p.R119LfsX24
DB-ID CYP27A1_00008
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
?/? Paternal (inferred) 2 c.355delC Deletion of Cytosine 376 p.R119LfsX24 CYP27A1_00008 -
?/? Maternal (inferred) 2 c.355delC Deletion of Cytosine 376 p.R119LfsX24 CYP27A1_00008 -