LOVD - Variant listings for CYP27A1

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Patient data (#0000128)
Disease Cerebrotendinous Xanthomatosis
Reference De la Fuente et al., 2011
Template -
Technique -

Variant data
Allele Paternal (inferred)
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 6
DNA change c.1043_1054delTGTACCACCTCT   (View in UCSC Genome Browser, Ensembl)
DNA published -
Protein p.L348PfsX66
DB-ID CYP27A1_00062
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
?/? Maternal (inferred) 6 c.1043_1054delTGTACCACCTCT - p.L348PfsX66 CYP27A1_00062 -
?/? Paternal (inferred) 6 c.1043_1054delTGTACCACCTCT - p.L348PfsX66 CYP27A1_00062 -