Variant information


Systematic Name
(NM_004992.3:)		 c.611C>A
Protein name
(NP_004983)		 p.Ser204*
Alternate systematic Name
(NM_001110792.1:)		 c.647C>A
Alternate Protein name
(NP_001104262)		 p.(Ser216*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296668G>T
Mutation type nonsense
Domain inter-domain
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.611C>A p.Ser204* Female Rett syndrome-classical 6587 ::: View details