Variant information


Systematic Name
(NM_004992.3:)		 c.[378-74C>T;602C>T];[378-74C>T]
Protein name
(NP_004983)		 p.[Ala201Val];[=]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type Intronic variation, missense
Domain Intronic, inter-domain region
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[378-74C>T;602C>T];[378-74C>T] p.[Ala201Val];[=] Female Not Rett synd. 2053 ::: View details