Proband information


Proband id 3862
Systematic Name
(NM_004992.3:)		 c.*8500C>G
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:)		 g.153287318G>C
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 daughter with classical RTT
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial familial
Phenotype-class Not Rett synd.-unaffected family member
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 3'UTR variation Male daughter with classical RTT Not Rett synd. 3862 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