Variant: rs142000963

present in Gene: LMNA present in Chromosome: 1 Position on Chromosome: 156138719 Alleles of this Variant: C/A;T

rs142000963 in LMNA gene and Charcot-Marie-Tooth Disease PMID 18478590 2008 Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.

PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.