Variant information



Systematic Name c.905C>G
Protein name p.Pro302Arg
Mutation type missense
Domain TRD
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 11
2 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 26
3 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 232
4 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 233
5 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Female Rett syndrome-Classical 938
6 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1171
7 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1302
8 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1303
9 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 2175
10 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 2176
11 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2450
12 c.905C>G p.Pro302Arg Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2466
13 c.905C>G p.Pro302Arg missense TRD Mutation associated with disease Female Rett syndrome-classical 3398
14 c.905C>G p.Pro302Arg missense TRD Mutation associated with disease Female Rett syndrome-classical 3678
15 c.905C>G p.Pro302Arg missense TRD Mutation associated with disease Female Rett syndrome-not certain 4920