Variant information


Systematic Name
(NM_004992.3:)		 c.-156C>T
Protein name
(NP_004983)		 p.(=)
Alternate systematic Name
(NM_001110792.1:)		 c.5C>T
Alternate Protein name
(NP_001104262)		 p.(Ala2Val)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153363118G>A
Mutation type missense
Domain exon 1
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.-156C>T p.(=) Female Rett syndrome-classical 3864 The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform:Fichou, Y., Nectoux, J., Bahi-Buisson, N., Rosas-Vargas, H., Girard, B., Chelly, J., Bienvenu, T.:Neurogenetics: 19034540 View details
2 c.-156C>T p.(=) Female Rett syndrome-not certain 3867 Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome:Saunders, C.J., Minassian, B.E., Chow, E.W.C., Zhao, W., Vincent, J.B.:Am J Med Genet Part A: 19365833 View details
3 c.-156C>T p.(=) Female Rett syndrome-classical 6623 ::: View details
4 c.-156C>T p.(=) Female Not Rett synd. 6622 ::: View details