LOVD - Variant listings for CYP27A1

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Patient data (#0000052)
Disease Cerebrotendinous Xanthomatosis
Reference Nakashima et al., 1994
Template -
Technique -

Variant data
Allele Paternal (inferred)
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 2
DNA change c.409C>T   (View in UCSC Genome Browser, Ensembl)
DNA published -
Protein p.R137W
DB-ID CYP27A1_00018
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) 2 c.409C>T - p.R137W CYP27A1_00018 dbSNP
?/? Paternal (inferred) 2 c.409C>T - p.R137W CYP27A1_00018 dbSNP