Variant information


Systematic Name
(NM_004992.3:)		 c.398G>C
Protein name
(NP_004983)		 p.Arg133Pro
Alternate systematic Name
(NM_001110792.1:)		 c.434G>C
Alternate Protein name
(NP_001104262)		 p.(Arg145Pro)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296881C>G
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.398G>C p.Arg133Pro Female Rett syndrome-classical 6576 ::: View details