Variant information



Systematic Name c.301C>T
Protein name p.Pro101Ser
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.301C>T p.Pro101Ser Missense MBD Unknown Female Rett syndrome-Classical 1436
2 c.301C>T p.Pro101Ser Missense MBD Unknown Female Not Known 1687
3 c.301C>T p.Pro101Ser Missense MBD Unknown Female Rett syndrome-Not certain 1822
4 c.301C>T p.Pro101Ser Missense MBD Unknown Female Rett syndrome-Atypical 2169