Variant information



Systematic Name c.316C>G
Protein name p.Arg106Gly
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.316C>G p.Arg106Gly Missense MBD Unknown Female Rett syndrome-Classical 2194
2 c.316C>G p.Arg106Gly Missense MBD Unknown Female Not Rett synd. 2195
3 c.316C>G p.Arg106Gly Missense MBD Unknown Female Rett syndrome-Atypical 2196
4 c.316C>G p.Arg106Gly missense MBD Unknown Female Rett syndrome-not certain 3095
5 c.316C>G p.Arg106Gly missense MBD Unknown Female Rett syndrome-not certain 3425