Variant information



Systematic Name c.386G>T
Protein name p.Gly129Val
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.386G>T p.Gly129Val Missense MBD Unknown Female Not Known 2137
2 c.386G>T p.Gly129Val missense MBD Unknown Female Rett syndrome-not certain 3528