Variant: rs118203963

present in Gene: SPG11 present in Chromosome: 15 Position on Chromosome: 44573652 Alleles of this Variant: G/A;C

rs118203963 in SPG11 gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X PMID 17322883 2007 Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

rs118203963 in SPG11 gene and Spastic paraplegia 11, autosomal recessive PMID 17322883 2007 Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.