Gene Mutations
 
Records Return:  (7) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
RECQL46037802684008q24.32-BP DEL, NT24920003ROTHMUND-THOMSON SYNDROME1
RECQL46037802684008q24.3g.2626G>A ROTHMUND-THOMSON SYNDROME5
RECQL46037802684008q24.3g.2746del11 ROTHMUND-THOMSON SYNDROME3
RECQL46037802684008q24.3g.2886delT ROTHMUND-THOMSON SYNDROME3
RECQL46037802684008q24.3g.4503C>T ROTHMUND-THOMSON SYNDROME2
RECQL46037802684008q24.3g.4644delAT ROTHMUND-THOMSON SYNDROME1
RECQL46037802684008q24.3IVS12AS, G>T, -10004ROTHMUND-THOMSON SYNDROME1