Variant information



Systematic Name c.377+22C>G
Protein name
Mutation type intronic
Domain intronic
Pathogenicity Polymorphism not causing disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Male Not Rett synd. 1023
2 c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Unknown Not Known 1383
3 c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Unknown Not Known 1384
4 c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Male Not Rett synd. 1562
5 c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Male Not Rett synd. 1583
6 c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Female Not Rett synd. 1584
7 c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Female Not Rett synd. 1585
8 c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Female Not Known 1705
9 c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Female Rett syndrome-Not certain 1829
10 c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Male Not Rett synd. 1975
11 c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Female Not Rett synd. 2384
12 c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Male Not Rett synd. 2385
13 c.377+22C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Male Not Rett synd. 2386
14 c.377+22C>G intronic variation intronic variation intronic Polymorphism not causing disease Female Rett syndrome-Classical 2630
15 c.377+22C>G intronic variation intronic variation intronic Polymorphism not causing disease Female Rett syndrome-Classical 2631
16 c.377+22C>G intronic variation intronic variation intronic Polymorphism not causing disease Female Not Rett synd. 4388
17 c.377+22C>G intronic variation intronic variation intronic Polymorphism not causing disease Female Rett syndrome-not certain 5141
18 c.377+22C>G intronic variation intronic variation intronic Polymorphism not causing disease Unknown Not Rett synd. 5142
19 c.377+22C>G intronic intronic Polymorphism not causing disease Female Not Rett synd. 6847