Variant: rs373674344 

    present in Gene: MCM3AP
    present in Chromosome: 21
    Position on Chromosome: 46267138
    Alleles of this Variant: C/T

rs373674344 in MCM3AP gene and PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT PMID 29982295 2018 A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy.

PMID 28633435 2017 MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

PMID 28969388 2017 Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.

PMID 24123876 2013 Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.