Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.167_168delCC p.Pro56fs Male Not Known 1024 Somatic mutation in MeCP2 as a non-fatal neurodevelopmental disorder in males:Clayton-Smith, J., Watson, P., Ramsden, S., Black, G. C.:The Lancet: 11022934 View details
2 c.167_168delCC p.Pro56fs Male Not Rett synd. 1155 Angelman syndrome phenotype associated with mutations in MeCP2, a gene encoding a methyl CpG binding protein:Watson, Pamela, Black, Graeme, Ramsden, Simon, Barrow, Margaret, Super, Maurice, Kerr, Bronwyn, Clayton-Smith, Jill:Journal of Medical Genetics: 11283202 View details