Variant information


Systematic Name
(NM_004992.3:)		 c.914_1172del259
Protein name
(NP_004983)		 p.Lys305fs
Alternate systematic Name
(NM_001110792.1:)		 c.950_1208del259
Alternate Protein name
(NP_001104262)		 p.(Lys317Metfs*18)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296107_153296365del259
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.914_1172del259 p.Lys305fs Unknown Rett syndrome-Not certain 143 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