Table 6.

Notable VLDLR Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NC​_000009 g.2479657_2678818delEntire gene deletionHutterite founder variant [Boycott et al 2005]
NM​_003383
NP_003374​.3
c.1256G>Ap.Cys419TyrPerson reported w/less severe phenotype, predicted due to pathogenic variant in a less essential domain (EGF-B) [Micalizzi et al 2016]

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.

From: VLDLR Cerebellar Hypoplasia

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