Variant: rs1553190285

present in Gene: ATP1A1 present in Chromosome: 1 Position on Chromosome: 116384802 Alleles of this Variant: T/G

rs1553190285 in ATP1A1 gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD PMID 29499166 2018 Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.