Proband information


Proband id 6738
Systematic Name
(NM_004992.3:)		 c.573delC
Protein name
(NP_004983)		 p.Ser194Alafs*16
Alternate systematic Name
(NM_001110792.1:)		 c.609delC
Alternate Protein name
(NP_001104262)		 p.(Ser206Alafs*16)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296706delG
Mutation type frameshift insertion or deletion
Domain Inter-domain region
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection HRM,sequencing
Extent
Source of DNA blood
Carrier Y
Carrier result Mother,Father-Negative
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-congenital onset
Reference MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.573delC p.Ser194Alafs*16 Female Mother,Father-Negative Rett syndrome-congenital onset 6738 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561