Proband information


Proband id 1381
Systematic Name
(NM_004992.3:)		 c.1043_1173del131insTG
Protein name
(NP_004983)		 p.Glu348_Pro391delinsVal
Alternate systematic Name
(NM_001110792.1:)		 c.1079_1209delinsTG
Alternate Protein name
(NP_001104262)		 p.(Glu360_Pro403delinsVal)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296106_153296236delinsCA
Mutation type In-frame combined insertion and deletion
Domain C-term
Pathogenicity Unknown
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.1043_1173del131insTG p.Glu348_Pro391delinsVal Female Neither parent has variation Rett syndrome-Not certain 1381 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