Variant information


Systematic Name
(NM_004992.3:)		 c.-113C>T
Protein name
(NP_004983)		 p.(=)
Alternate systematic Name
(NM_001110792.1:)		 c.48C>T
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153363075G>A
Mutation type splicing
Domain N-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.-113C>T p.(=) Female Rett syndrome-classical 5233 A synonymous change, p.Gly16Gly in MECP2 exon 1, causes a cyrptic splice event in a Rett syndrome patient:Sheikh, T.I., Mittal, K., Willis, M.J., Vincent, J.B.:Orphanet Journal of Rare Disorders: 23866855 View details