Variant information


Systematic Name c.167_168delCC
Protein name p.Pro56fs
Mutation type Frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection SSCP
Extent Not certain
Number of chromosomes checked 100 chromosomes tested and not found in 100 chromosomes
Carrier status checked Yes
Carrier result Mutation not carried by parents
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Not known
Phenotype-class Not Known
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.167_168delCC p.Pro56fs Frameshift insertion or deletion N-term Mutation associated with disease 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
2 c.167_168delCC p.Pro56fs Frameshift insertion or deletion N-term Mutation associated with disease 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