Variant information



Systematic Name c.965C>T
Protein name p.Pro322Leu
Mutation type Missense
Domain C-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.965C>T p.Pro322Leu Missense C-term Unknown Female Rett syndrome-Not certain 79
2 c.965C>T p.Pro322Leu Missense C-term Unknown Female Rett syndrome-Classical 2178
3 c.965C>T p.Pro322Leu Missense C-term Unknown Female Rett syndrome-Classical 2424
4 c.965C>T p.Pro322Leu missense C-term Unknown Female Rett syndrome-classical 2818
5 c.965C>T p.Pro322Leu missense C-term Unknown Female Rett syndrome-not certain 3165
6 c.965C>T p.Pro322Leu missense C-term Unknown Female Rett syndrome-not certain 3564
7 c.965C>T p.Pro322Leu missense C-term Unknown Female Rett syndrome-Classical 4287
8 c.965C>T p.Pro322Leu missense C-term Unknown Female Rett syndrome-classical 6349
9 c.965C>T p.Pro322Leu missense C-term Unknown Female Rett syndrome-classical 6348