Variant: rs587777678

present in Gene: LAMA1;LOC101927188 present in Chromosome: 18 Position on Chromosome: 6956768 Alleles of this Variant: GTAGAAACAAGAG/-

rs587777678 in LAMA1;LOC101927188 gene and Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome PMID 25105227 2014 Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.