Variant information


Systematic Name
(NM_004992.3:)		 c.274G>T
Protein name
(NP_004983)		 p.Gly92*
Alternate systematic Name
(NM_001110792.1:)		 c.310G>T
Alternate Protein name
(NP_001104262)		 p.(Gly104*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297761C>A
Mutation type nonsense
Domain MBD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.274G>T p.Gly92* Female Rett syndrome-classical 4396 :Khajuria, R.:: View details