Variant information


Systematic Name
(NM_004992.3:)		 c.378-?_1170+?del
Protein name
(NP_004983)		 p.Asn126fs
Alternate systematic Name
(NM_001110792.1:)		 c.414_1206del
Alternate Protein name
(NP_001104262)		 p.(Pro139Leufs*18)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296109_153296901del
Mutation type frameshift insertion or 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-?_1170+?del p.Asn126fs Female Rett syndrome-not certain 3618 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 View details