Variant information


Systematic Name
(NM_004992.3:)		 c.690A>C
Protein name
(NP_004983)		 p.Pro230Pro
Alternate systematic Name
(NM_001110792.1:)		 c.726A>C
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296589T>G
Mutation type Silent
Domain TRD
Pathogenicity Silent polymorphism

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.690A>C p.Pro230Pro Female Not Known 2128 :Cardiff, UK:: View details
2 c.690A>C p.Pro230Pro Male Not Rett synd. 2129 :Cardiff, UK:: View details