Proband information


Proband id 3861
Systematic Name
(NM_004992.3:)		 c.[*8500C>G];[*8503delC]
Protein name
(NP_004983)		 3'UTR variation
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type 3'UTR variation
Domain 3'UTR
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity 218 chromosomes tested and not found in 218 chromosomes
Detection SSCP
Extent 3' UTR
Source of DNA blood
Carrier Y
Carrier result unaffected father with c.*8500C>G and unaffected mother with c.*8503delC
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-mental retardation
Reference Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation:Santos, M., Yan, J., Temudo, T., Oliveira, G., Vieira, J.P., Fen, J., Sommer, S., Maciel, P.:Disease Markers: 18688080

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[*8500C>G];[*8503delC] 3'UTR variation Female unaffected father with c.*8500C>G and unaffected mother with c.*8503delC Not Rett synd. 3861 Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation:Santos, M., Yan, J., Temudo, T., Oliveira, G., Vieira, J.P., Fen, J., Sommer, S., Maciel, P.:Disease Markers: 18688080