Variant information


Systematic Name
(NM_004992.3:)		 c.849_1236del388
Protein name
(NP_004983)		 p.Lys284fs
Alternate systematic Name
(NM_001110792.1:)		 c.885_1272del388
Alternate Protein name
(NP_001104262)		 p.(Lys296Alafs*69)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296043_153296430del388
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.849_1236del388 p.Lys284fs Unknown Rett syndrome-Not certain 138 Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854 View details