Variant information


Systematic Name
(NM_004992.3:)		 c.1210G>A
Protein name
(NP_004983)		 p.Glu404Lys
Alternate systematic Name
(NM_001110792.1:)		 c.1246G>A
Alternate Protein name
(NP_001104262)		 p.(Glu416Lys)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296069C>T
Mutation type missense
Domain C-term
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1210G>A p.Glu404Lys Female Rett syndrome-classical 6579 ::: View details