Proband information


Proband id 1155
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
Evidence of Pathogenicity
Detection
Extent
Source of DNA
Carrier Y
Carrier result Neither parent has variation
Other mutations
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial
Phenotype-class Not Rett synd.-Angelman syndrome
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.167_168delCC p.Pro56fs Male Mutation not carried by parents 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 Male Neither parent has variation 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