Gene Mutations
 
Records Return:  (11) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
LMNA1503302777001q21.2ALA57PRO0030WERNER SYNDROME, ATYPICAL1
LMNA1503302777001q21.2ARG133LEU0027WERNER SYNDROME, ATYPICAL2
LMNA1503301813501q21.2ARG249GLN EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT1
LMNA1503302483701q21.2ARG471CYS0025MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY1
LMNA1503302483701q21.2ARG527CYS0026MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY1
LMNA1503301766701q21.2ARG644CYS HUTCHINSON-GILFORD PROGERIA SYNDROME2
LMNA1503302777001q21.2GLU578VAL WERNER SYNDROME1
LMNA1503301766701q21.2GLY608GLY0022HUTCHINSON-GILFORD PROGERIA SYNDROME10
LMNA1503301766701q21.2GLY608SER0023HUTCHINSON-GILFORD PROGERIA SYNDROME1
LMNA1503301813501q21.2LEU35PRO EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT1
LMNA1503302697001q21.2THR10ILE SEIP SYNDROME1