Variant information

Systematic Name
c.[1158_1167del10; 1173_1188del16]
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[1158_1167del10; 1173_1188del16] p.Pro387Hisfs*9 Female Rett syndrome-classical 3010 MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643 View details