Variant information



Systematic Name c.298C>G
Protein name p.Leu100Val
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.298C>G p.Leu100Val Missense MBD Unknown Female Rett syndrome-Not certain 1139
2 c.298C>G p.Leu100Val Missense MBD Unknown Female Rett syndrome-Classical 1215
3 c.298C>G p.Leu100Val Missense MBD Unknown Female Rett syndrome-Not certain 1648
4 c.298C>G p.Leu100Val Missense MBD Unknown Female Rett syndrome-atypical 1946
5 c.298C>G p.Leu100Val missense MBD Unknown Female Rett syndrome-classical 2804
6 c.298C>G p.Leu100Val missense MBD Unknown Female Rett syndrome-not certain 4903
7 c.298C>G p.Leu100Val missense MBD Unknown Female Rett syndrome-classical 6599