Variant information



Systematic Name c.836C>T
Protein name p.Ala279Val
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.836C>T p.Ala279Val missense TRD Unknown Female Rett syndrome-classical 2990
2 c.836C>T p.Ala279Val missense TRD Unknown Female Rett syndrome-classical 2991
3 c.836C>T p.Ala279Val missense TRD Unknown Female Rett syndrome-classical 2992