Variant information



Systematic Name c.397C>G
Protein name p.Arg133Gly
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.397C>G p.Arg133Gly Missense MBD Unknown Female Not Known 1798
2 c.397C>G p.Arg133Gly missense MBD Unknown Female Rett syndrome-not certain 3431