Variant information


Systematic Name
(NM_004992.3:)		 c.720C>T
Protein name
(NP_004983)		 p.Thr240Thr
Alternate systematic Name
(NM_001110792.1:)		 c.756C>T
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296559G>A
Mutation type Silent
Domain TRD
Pathogenicity Silent polymorphism

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.720C>T p.Thr240Thr Female Not Known 2132 :Cardiff, UK:: View details
2 c.720C>T p.Thr240Thr Male Not Rett synd. 2133 :Cardiff, UK:: View details