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Table 4. Selected PAFAH1B1 (LIS1) Recurrent Allelic Variants

Class of Variant AlleleDNA Nucleotide Change
(Alias 1)
Protein Amino Acid ChangeReference Sequences
Normalc.X3T>C
(1233*3T>G)
--NM_000430​.3
NP_000421​.1
c.X17C>T
(1233*17C>T)
--
Pathologicc.162delAp.Lys54Asnfs*15
c.162dupA
(c.162_163insA)
p.Trp55Metfs*6
c.1050delGp.Lys351Serfs*4
c.1050dupG
(c.1050_1051insG)
p.Lys351Glufs*8
c.569-10T>C
(IVS6-10T>C)
--
c.1002+1G>A
(IVS9+1G>A)
--

Note on variant classification: Variants listed in the table have been provided by the author(s). GeneReviews staff have not independently verified the classification of variants.

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

1. Variant designation that does not conform to current naming conventions

From: LIS1-Associated Lissencephaly/Subcortical Band Heterotopia

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