Variant information


Systematic Name
(NM_004992.3:)		 c.750_750delCinsTCAGGAAGCTT
Protein name
(NP_004983)		 p.Pro251fs
Alternate systematic Name
(NM_001110792.1:)		 c.786delinsTCAGGAAGCTT
Alternate Protein name
(NP_001104262)		 p.(Pro263Glnfs*11)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296529delinsAAGCTTCCTGA
Mutation type Frameshift combined insertion and deletion
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.750_750delCinsTCAGGAAGCTT p.Pro251fs Female Rett syndrome-Not certain 1380 Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome:Lam, Ching-Wan, Yeung, Wai-Lan, Ko, Chung-Hung, Poon, Priscilla M K, Tong, Sui-Fan, Chan, Kwok-Yin, Lo, Ivan F M, Chan, Lisa Y S, Hui, Joannie, Wong, Virginia, Pang, Chi-Pui, Lo, Y M Dennis, Fok, Tai-Fai:Journal of Medical Genetics: 11106359 View details