Variant information



Systematic Name c.378-74C>T
Protein name intronic variation
Mutation type Intronic variation
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.378-74C>T intronic variation Intronic variation Intronic Polymorphism not causing disease Female Not Known 2056
2 c.378-74C>T intronic variation Intronic variation Intronic Polymorphism not causing disease Female Not Known 2057
3 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 2764
4 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Female Rett syndrome-classical 3799
5 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 3931
6 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Female Not Rett synd. 3932
7 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Female Rett syndrome-Classical 4354
8 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Female Rett syndrome-Classical 4355
9 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Female Rett syndrome-Classical 4356
10 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Female Rett syndrome-Classical 4357
11 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Female Rett syndrome-Classical 4358
12 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 5082
13 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 5083
14 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 5084
15 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 5085
16 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 5086
17 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 5087
18 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 5088
19 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 5089
20 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 5090
21 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 5091
22 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 5092
23 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 5093
24 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 5094
25 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 5095
26 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 5096
27 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 5097
28 c.378-74C>T intronic variation intronic variation intronic Polymorphism not causing disease Male Not Rett synd. 5098
29 c.378-74C>T intronic intronic Polymorphism not causing disease Female Not Rett synd. 6848