Variant information


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

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.50dupA p.Asp17fs Female 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 View details