Variant information


Systematic Name c.27-?_377+?del (exon 3 deletion)
Protein name p.Arg9_Asn126delinsSer
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection quantitative PCR
Extent exons 3 and 4 only
Number of chromosomes checked
Carrier status checked Yes
Carrier result not in parents but in monozygotic twin sister
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Rett syndrome-not certain
Reference De novo deletion in MECP2 in a monozygotic twin pair: a case report:Mittal, K., Kabra, M., Juyal, R., BK, T.:BMC Medical Genetics: 21871116

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.27-?_377+?del (exon 3 deletion) p.Arg9_Asn126delinsSer frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-not certain 3350 Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome:Laccone, F. Jünemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D:Human Mutation: 14974082
2 c.27-?_377+?del (exon 3 deletion) p.Arg9_Asn126delinsSer frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-not certain 4777 De novo deletion in MECP2 in a monozygotic twin pair: a case report:Mittal, K., Kabra, M., Juyal, R., BK, T.:BMC Medical Genetics: 21871116
3 c.27-?_377+?del (exon 3 deletion) p.Arg9_Asn126delinsSer frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-not certain 4778 De novo deletion in MECP2 in a monozygotic twin pair: a case report:Mittal, K., Kabra, M., Juyal, R., BK, T.:BMC Medical Genetics: 21871116