Variant information


Systematic Name
(NM_004992.3:)		 c.167_168delCC
Protein name
(NP_004983)		 p.Pro56fs
Alternate systematic Name
(NM_001110792.1:)		 c.203_204delCC
Alternate Protein name
(NP_001104262)		 p.(Pro68Argfs*34)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297867_153297868delGG
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