Variant information


Systematic Name
(NM_004992.3:)		 c.767_1175del409
Protein name
(NP_004983)		 p.Lys256Serfs*17
Alternate systematic Name
(NM_001110792.1:)		 c.803_1211del409
Alternate Protein name
(NP_001104262)		 p.(Lys268Serfs*17)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296104_153296512del409
Mutation type frameshift insertion or deletion
Domain TRD-NLS, C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.767_1175del409 p.Lys256Serfs*17 Female Rett syndrome-classical 5062 Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346 View details