Table 7.

Notable NOTCH3 Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_000435​.2
NP_000426​.2
c.397C>Tp.Arg133CysFinnish founder variant [Mykkänen et al 2004]
c.1630C>Tp.Arg544CysChinese founder variant [Lee et al 2009]
c.3016C>Tp.Arg1006CysMarche region of Italy founder variant [Bianchi et al 2015]

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: CADASIL

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