Proband information


Proband id 3869
Systematic Name
(NM_004992.3:)		 c.119_120delAG
Protein name
(NP_004983)		 p.Glu40fs
Alternate systematic Name
(NM_001110792.1:)		 c.155_156delAG
Alternate Protein name
(NP_001104262)		 p.(Glu52Glyfs*4)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297915_153297916delCT
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 50 chromosomes tested and not found in 50 chromosomes
Detection direct
Extent exons 1-4
Source of DNA blood
Carrier Y
Carrier result mother normal
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-neonatal encephalopathy
Reference A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism:Julich, K., Horn, D., Burfeind, P., Erler, T., Auber, B.:J Pediatr: 19559301

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.119_120delAG p.Glu40fs Female de novo Rett syndrome-not certain 3596 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
2 c.119_120delAG p.Glu40fs Male mother normal Not Rett synd. 3869 A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism:Julich, K., Horn, D., Burfeind, P., Erler, T., Auber, B.:J Pediatr: 19559301