Variant information

Systematic Name
Protein name
"intronic variation, p.Asp156Glu"
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type missense
Domain MBD
Pathogenicity Unknown

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[26+22C>G(;)468C>G] "intronic variation, p.Asp156Glu" Female Rett syndrome-classical 2811 Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765 View details