Gene Mutations
 
Records Return:  (7) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
RECQL26046112777008p12-p11.22476C>T WERNER SYNDROME1
RECQL26046112777008p12-p11.2ARG368TER0006WERNER SYNDROME4
RECQL26046112777008p12-p11.2ARG889TER WERNER SYNDROME1
RECQL26046112777008p12-p11.2CYS1367ARG WERNER SYNDROME1
RECQL26046112777008p12-p11.2deletion of >15kb within IVS18 and IVS23 WERNER SYNDROME1
RECQL26046112777008p12-p11.2IVS25DS, G>C, -1, FS1061TER0004WERNER SYNDROME1
RECQL26046112777008p12-p11.2PHE1074LEU WERNER SYNDROME3