Lissencephaly 3

OMIM:611603
Mode of inheritance:Autosomal dominant
Disease classification:Congenital malformations and chromosomal abnormalities

Mutations

Gene Symbol	TUBA1A
Reference transcript	NM_006009.3
DNA Change	c.13A>C
A.A. Change	p.Ile5Leu
Exon/Intron	exon 2
Mutation Type	substitution
Reference	Jansen AC, Oostra A, Desprechins B, De Vlaeminck Y, Verhelst H, Regal L, Verloo P, Bockaert N, Keymolen K, Seneca S, De Meirleir L, Lissens W.TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. Neurology. 2011 Mar 15;76(11):988-92.

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