Variant information


Systematic Name
(NM_004992.3:)		 c.378-?_1185+?del
Protein name
(NP_004983)		 p.Asn126fs
Alternate systematic Name
(NM_001110792.1:)		 c.414_1221del
Alternate Protein name
(NP_001104262)		 p.(Gln140Argfs*12)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296094_153296901del
Mutation type exon deletion
Domain MBD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.378-?_1185+?del p.Asn126fs Female Rett syndrome-classical 2788 Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome:Pan, H., Li, M.-R., Nelson, P., Bao, X.-H., Wu, X.-R., Yu, S.:Clinical Genetics: 17026625 View details