Variant: rs397514735

present in Gene: DNM2 present in Chromosome: 19 Position on Chromosome: 10795378 Alleles of this Variant: T/G

rs397514735 in DNM2 gene and LETHAL CONGENITAL CONTRACTURE SYNDROME 5 PMID 23092955 2013 Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.