Variant information


Systematic Name
(NM_004992.3:)
c.27-?_377+?del (exon 3 deletion)
Protein name
(NP_004983)
p.Arg9_Asn126delinsSer
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
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.27-?_377+?del (exon 3 deletion) p.Arg9_Asn126delinsSer 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 View details
2 c.27-?_377+?del (exon 3 deletion) p.Arg9_Asn126delinsSer 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 View details
3 c.27-?_377+?del (exon 3 deletion) p.Arg9_Asn126delinsSer 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 View details