Variant information



Systematic Name c.905C>T
Protein name p.Pro302Leu
Mutation type Missense
Domain TRD
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.905C>T p.Pro302Leu Missense TRD Unknown Unknown Rett syndrome-Classical 910
2 c.905C>T p.Pro302Leu Missense TRD Unknown Female Rett syndrome-Not certain 1636
3 c.905C>T p.Pro302Leu Missense TRD Unknown Female Not Known 1686
4 c.905C>T p.Pro302Leu Missense TRD Unknown Female Rett syndrome-Classical 2174
5 c.905C>T p.Pro302Leu missense TRD Unknown Female Rett syndrome-classical 3381
6 c.905C>T p.Pro302Leu missense TRD Unknown Female Rett syndrome-not certain 3452