Variant information



Systematic Name c.365T>C
Protein name p.Val122Ala
Mutation type missense
Domain MBD
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.365T>C p.Val122Ala missense MBD Unknown Male Not Rett synd. 4036
2 c.365T>C p.Val122Ala missense MBD Unknown Female Not Rett synd. 4037
3 c.365T>C p.Val122Ala missense MBD Unknown Female Not Rett synd. 4038