Proband information


Proband id 2000
Systematic Name
(NM_004992.3:)		 c.1135_1142delCCCGTGCC
Protein name
(NP_004983)		 p.Pro379fs
Alternate systematic Name
(NM_001110792.1:)		 c.1171_1178delCCCGTGCC
Alternate Protein name
(NP_001104262)		 p.(Pro391Thrfs*11)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296137_153296144delGGCACGGG
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Variation not found in unaffected sister or mother, father not available
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Not Rett synd.-Sporadic mental retardation
Reference Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion:Konrad Oexle, Barbara Thamm-Mücke, Thomas Mayer, Sigrid Tinschert:European Journal of Pediatrics: 15558314

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1135_1142delCCCGTGCC p.Pro379fs Female Variation not found in unaffected sister or mother, father not available Not Rett synd. 2000 Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion:Konrad Oexle, Barbara Thamm-Mücke, Thomas Mayer, Sigrid Tinschert:European Journal of Pediatrics: 15558314