Variant: rs768950892

present in Gene: TRAPPC12 present in Chromosome: 2 Position on Chromosome: 3478848 Alleles of this Variant: C/T

rs768950892 in TRAPPC12 gene and ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY PMID 28777934 2017 Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.