Variant information



Systematic Name c.1081C>G
Protein name p.Pro361Ala
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.1081C>G p.Pro361Ala Missense C-term Unknown Female Not Known 2154
2 c.1081C>G p.Pro361Ala Missense C-term Unknown Female Not Rett synd. 2155
3 c.1081C>G p.Pro361Ala Missense C-term Unknown Male Not Known 2156
4 c.1081C>G p.Pro361Ala Missense C-term Unknown Female Not Rett synd. 2157