Variant information


Systematic Name
(NM_004992.3:)		 c.[945_1025conNM_004992.3:c.1196_1252; 1136_*8554+2526del]
Protein name
(NP_004983)		 p.Val316fs
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 TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[945_1025conNM_004992.3:c.1196_1252; 1136_*8554+2526del] p.Val316fs Female Rett syndrome-not certain 3346 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