Variant information


Systematic Name
(NM_004992.3:)		 c.[609G>A(;)905C>T]
Protein name
(NP_004983)		 p.[Thr203Thr(;)Pro302Leu]
Alternate systematic Name
(NM_001110792.1:)		 c.[645G>A;941C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296670C>T;153296374G>A]
Mutation type Silent, missense
Domain Inter-domain region, TRD
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[609G>A(;)905C>T] p.[Thr203Thr(;)Pro302Leu] Female Rett syndrome-Not certain 1875 :Bunyan, D.:: View details