Proband information


Proband id 1380
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
Evidence of Pathogenicity 200 chromosomes tested and not found in 200 chromosomes
Detection Direct sequencing or DHPLC
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Neither parent has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.750_750delCinsTCAGGAAGCTT p.Pro251fs Female Neither parent has variation 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