Variant information


Systematic Name
(NM_004992.3:)
c.-160A>T
Protein name
(NP_004983)
p.(=)
Alternate systematic Name
(NM_001110792.1:)
c.1A>T
Alternate Protein name
(NP_001104262)
p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153363122T>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.-160A>T p.(=) Female Rett syndrome-classical 3865 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
2 c.-160A>T p.(=) Female Rett syndrome-classical 6625 ::: View details