Proband information


Proband id 2622
Systematic Name
(NM_004992.3:)		 c.1069_1071delAGC
Protein name
(NP_004983)		 p.Ser357del
Alternate systematic Name
(NM_001110792.1:)		 c.1105_1107delAGC
Alternate Protein name
(NP_001104262)		 p.(Ser369del)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296208_153296210delGCT
Mutation type in-frame insertion or deletion
Domain c-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 200 chromosomes tested and not found in 200 chromosomes
Detection direct
Extent exons 1-4
Source of DNA blood
Carrier Y
Carrier result parents negative
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-Classical
Reference Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1069_1071delAGC p.Ser357del Female parents negative Rett syndrome-Classical 2622 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578