present in Gene: LEMD2
present in Chromosome: 6
Position on Chromosome: 33789079
Alleles of this Variant: A/C;T
rs878852983 in
LEMD2 gene and
CATARACT 46, JUVENILE-ONSET
PMID 26788539 2016 Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.