Variant information


Systematic Name
(NM_004992.3:)		 c.1053_1156del104
Protein name
(NP_004983)		 p.Lys352fs
Alternate systematic Name
(NM_001110792.1:)		 c.1089_1192del104
Alternate Protein name
(NP_001104262)		 p.(Lys364Alafs*6)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296123_153296226del104
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1053_1156del104 p.Lys352fs Female Rett syndrome-classical 6672 ::: View details