Variant information


Systematic Name
(NM_004992.3:)		 c.311G>A
Protein name
(NP_004983)		 p.Trp104*
Alternate systematic Name
(NM_001110792.1:)		 c.347G>A
Alternate Protein name
(NP_001104262)		 p.(Trp116*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297724C>T
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.311G>A p.Trp104* Female Rett syndrome-Classical 2367 :Cardiff, UK:: View details