Variant information



Systematic Name c.419C>T
Protein name p.Ala140Val
Mutation type Missense
Domain MBD
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.419C>T p.Ala140Val Missense MBD Unknown Female Not Rett synd. 218
2 c.419C>T p.Ala140Val Missense MBD Unknown Female Not Rett synd. 219
3 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 220
4 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 221
5 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 222
6 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 223
7 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 1014
8 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 1015
9 c.419C>T p.Ala140Val Missense MBD Unknown Female Not Rett synd. 1265
10 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 1266
11 c.419C>T p.Ala140Val Missense MBD Unknown Female Not Rett synd. 1267
12 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 1268
13 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 1269
14 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 1270
15 c.419C>T p.Ala140Val Missense MBD Unknown Female Not Rett synd. 1271
16 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 1272
17 c.419C>T p.Ala140Val Missense MBD Unknown Male Not Rett synd. 1966
18 c.419C>T p.Ala140Val Missense MBD Unknown Female Not Rett synd. 1967
19 c.419C>T p.Ala140Val missense MBD Unknown Female Not Rett synd. 5302
20 c.419C>T p.Ala140Val missense MBD Unknown Female Not Rett synd. 4093
21 c.419C>T p.Ala140Val missense MBD Unknown Male Not Rett synd. 4398
22 c.419C>T p.Ala140Val missense MBD Unknown Male Not Rett synd. 4399
23 c.419C>T p.Ala140Val missense MBD Unknown Male Not Rett synd. 4400
24 c.419C>T p.Ala140Val missense MBD Unknown Male Not Rett synd. 4401
25 c.419C>T p.Ala140Val missense MBD Unknown Female Not Rett synd. 4402
26 c.419C>T p.Ala140Val missense MBD Unknown Female Not Rett synd. 4403
27 c.419C>T p.Ala140Val missense MBD Unknown Female Not Rett synd. 4404
28 c.419C>T p.Ala140Val missense MBD Unknown Female Not Rett synd. 4405
29 c.419C>T missense MBD Mutation associated with disease Male Not Rett synd. 6913