Variant information



Systematic Name c.372G>C
Protein name p.Leu124Phe
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.372G>C p.Leu124Phe Missense MBD Unknown Female Rett syndrome-Classical 155
2 c.372G>C p.Leu124Phe missense MBD Unknown Female Rett syndrome-classical 3396