Variant information


Systematic Name
(NM_004992.3:)		 c.[27-5862_1132del; 1157_1197del]
Protein name
(NP_004983)		 p.Arg9fs
Alternate systematic Name
(NM_001110792.1:)		 c.[63-5862_1168del;1193_1233del]
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296147_153303870del;153296082_153296122del]
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.[27-5862_1132del; 1157_1197del] p.Arg9fs Female Rett syndrome-not certain 3347 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