Variant information



Systematic Name c.302C>G
Protein name p.Pro101Arg
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.302C>G p.Pro101Arg Missense MBD Unknown Female Rett syndrome-Not certain 190
2 c.302C>G p.Pro101Arg Missense MBD Unknown Female Not Rett synd. 1152
3 c.302C>G p.Pro101Arg missense MBD Unknown Female Not Known 4426
4 c.302C>G p.Pro101Arg missense MBD Unknown Female Rett syndrome-classical 6598
5 c.302C>G p.Pro101Arg missense MBD Unknown Female Rett syndrome-classical 6597