Variant information


Systematic Name
(NM_004992.3:)		 c.1229G>A
Protein name
(NP_004983)		 p.Ser410Asn
Alternate systematic Name
(NM_001110792.1:)		 c.1265G>A
Alternate Protein name
(NP_001104262)		 p.(Ser422Asn)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296050C>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.1229G>A p.Ser410Asn Female Rett syndrome-Classical 2125 :Cardiff, UK:: View details