Variant: rs201430235

present in Gene: CEP55 present in Chromosome: 10 Position on Chromosome: 93528032 Alleles of this Variant: C/A

rs201430235 in CEP55 gene and Hydranencephaly with Renal Aplasia-Dysplasia PMID 28264986 2017 A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.