Variant information



Systematic Name c.380C>T
Protein name p.Pro127Leu
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.380C>T p.Pro127Leu Missense MBD Unknown Female Rett syndrome-Preserved speech 291
2 c.380C>T p.Pro127Leu Missense MBD Unknown Female Rett syndrome-Classical 2457
3 c.380C>T p.Pro127Leu missense MBD Unknown Female Rett syndrome-not certain 3096
4 c.380C>T p.Pro127Leu missense MBD Unknown Female Rett syndrome-not certain 3426
5 c.380C>T p.Pro127Leu missense MBD Unknown Female Rett syndrome-classical 4095