Variant information


Systematic Name
(NM_004992.3:)		 c.481_987del507ins8
Protein name
(NP_004983)		 p.Gly161fs
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type frameshift combined insertion and deletion
Domain MBD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.481_987del507ins8 p.Gly161fs Female Rett syndrome-Classical 2090 :Cardiff, UK:: View details