Variant information


Systematic Name
(NM_004992.3:)		 c.1278C>T
Protein name
(NP_004983)		 p.Ser426Ser
Alternate systematic Name
(NM_001110792.1:)		 c.1314C>T
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296001G>A
Mutation type silent
Domain C-term
Pathogenicity Silent polymorphism

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1278C>T p.Ser426Ser Female Rett syndrome-atypical 4079 :Khajuria, R.:: View details