Proband information


Proband id 4789
Systematic Name
(NM_004992.3:)		 c.50dupA
Protein name
(NP_004983)		 p.Asp17fs
Alternate systematic Name
(NM_001110792.1:)		 c.86dupA
Alternate Protein name
(NP_001104262)		 p.(Asp29Glufs*13)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297985dupT
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection SSCP
Extent 80% of MECP2
Source of DNA blood
Carrier Y
Carrier result not in parents
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Brain & Development: 21300488

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.50dupA p.Asp17fs Female not in parents Rett syndrome-classical 4789 Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Brain & Development: 21300488