Variant: rs752649372

present in Gene: SBF2 present in Chromosome: 11 Position on Chromosome: 9989597 Alleles of this Variant: T/C

rs752649372 in SBF2 gene and Charcot-Marie-Tooth disease type 4 PMID 12687498 2003 Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.

PMID 25873783 2014 Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families.