Variant: rs121917876 

    present in Gene: NHLRC1
    present in Chromosome: 6
    Position on Chromosome: 18122014
    Alleles of this Variant: A/T

rs121917876 in NHLRC1 gene and Lafora Disease PMID 21505799 2011 Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.

PMID 18311786 2008 Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin.

PMID 16021330 2005 Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.

PMID 12958597 2003 Mutations in NHLRC1 cause progressive myoclonus epilepsy.

PMID 15781812 2005 Lafora disease due to EPM2B mutations: a clinical and genetic study.

PMID 15930137 2005 Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.