LOVD - Variant listings for CYP27A1

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Patient data (#0000061)
Disease Cerebrotendinous Xanthomatosis
Reference Garuti et al., 1996
Template -
Technique -

Variant data
Allele Paternal (inferred)
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 3
DNA change c.646G>C   (View in UCSC Genome Browser, Ensembl)
DNA published -
Protein p.A216P
DB-ID CYP27A1_00019
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
?/? Paternal (inferred) 3 c.646G>C - p.A216P CYP27A1_00019 dbSNP
?/? Maternal (inferred) 3 c.646G>C - p.A216P CYP27A1_00019 dbSNP