Participants Enrolled in LADDER

Below you will find the number of participants who have enrolled in LADDER to date.

Number of participants

285

With Angelman diagnosis

161

With Dup15q diagnosis

124

Participant data (select a disorder below)

Filters

UBE3A Mutation Specify (counts)

c.1071T>G (p.Y357X): 2
c.1201C>T (p.R401X): 1
c.1355_1356insT (p.S453Lfs*21): 1
c.1358_1362delCTTTT (p.S453Yfs*19): 1
c.1505T>A (p.L502H): 2
c.1633G>A (p.G545R): 1
c.1634G>A (p.G545E): 1
c.1726_1730delTTTTG (F576Vfs*2): 1
c.1748T>C (p.F583S): 2
c.1967C>T (p.T656I): 1
c.2+1_2+2insAA: 2
c.2069T>G (p.F690C): 1

c.2167_2173dupTTAAAGT (Y725Ffs*11): 1
c.2337_2340dupAAGA (L781Kfs*43): 1
c.2507_2508delAA (stop codon lost): 1
c.2507_2508insCTTAA (p.K836Nfs*7): 2
c.2511_2514delGAGA (p.E837Dfs*3): 1
c.262_263delAT (p.I88Kfs*8): 1
c.2T>C (p.M1T - Initiating Met lost): 2
c.312_315delCTTA (p.Y104*): 1
c.317C>A (p.T106K): 5
c.62G>A (p.C21Y): 1
c.964C>T (p.Q322X): 1