Variant information



Systematic Name c.317G>A
Protein name p.Arg106Gln
Mutation type Missense
Domain MBD
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.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Female Rett syndrome-Classical 372
2 c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Female Rett syndrome-Classical 921
3 c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1025
4 c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1026
5 c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1262
6 c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1263
7 c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1882
8 c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1883
9 c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Female Not Known 2033
10 c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2436
11 c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Female Rett syndrome-not certain 3084
12 c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Female Rett syndrome-not certain 3085
13 c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Female Rett syndrome-not certain 3086
14 c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Female Rett syndrome-not certain 3418
15 c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Female Rett syndrome-not certain 3525
16 c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Female Rett syndrome-classical 3631
17 c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Female Rett syndrome-classical 3632
18 c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Female Rett syndrome-not certain 4730
19 c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Female Rett syndrome-not certain 4731
20 c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Female Rett syndrome-classical 6759
21 c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Female Rett syndrome-classical 6577