Variant information


Systematic Name
(NM_004992.3:)		 c.1163C>T
Protein name
(NP_004983)		 p.Pro388Leu
Alternate systematic Name
(NM_001110792.1:)		 c.1199C>T
Alternate Protein name
(NP_001104262)		 p.(Pro400Leu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296116G>A
Mutation type Missense
Domain C-term
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1163C>T p.Pro388Leu Female Rett syndrome-Forme fruste 2476 ::: View details
2 c.1163C>T p.Pro388Leu Female Rett syndrome-classical 4100 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 View details
3 c.1163C>T p.Pro388Leu Female Not Rett synd. 4101 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 View details