Table 8.

Notable DHCR7 Pathogenic Variants

Reference SequencesDNA Nucleotide Change
(Alias 1)
Predicted Protein ChangeComment [Reference]
NM_001360​.2
NP_001351​.2
c.964-1G>C
(IVS8-1G>C)
Most common pathogenic variant; accounts for ~28% of disease alleles; assoc w/a severe phenotype [Correa-Cerro & Porter 2005]
c.452G>Ap.Trp151TerCommon variants assoc w/a severe phenotype
c.1210C>Tp.Arg404Cys
c.278C>Tp.Thr93MetAssoc w/a milder phenotype; common in individuals of Mediterranean or Cuban ancestry [Nowaczyk et al 2004]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Variant designation that does not conform to current naming conventions

From: Smith-Lemli-Opitz Syndrome

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