Table 6.

Notable ASPM Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_018136​.4
NP_060606​.3 		c.3978G>Ap.Trp1326TerFounder variant in Turkish & Pakistani families [Létard et al 2018]
c.9557C>Gp.Ser3186TerFounder variant in Pakistan [Létard et al 2018]
c.7782_7783delp.Lys2595SerfsTer6Common pathogenic variant in Europe, Africa, & Asia; may be recurrent due to a hot spot [Létard et al 2018]

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: ASPM Primary Microcephaly

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