Variant information
Systematic Name (NM_004992.3:) |
c.992A>G |
---|---|
Protein name (NP_004983) |
p.Lys331Arg |
Alternate systematic Name (NM_001110792.1:) |
c.1028A>G |
Alternate Protein name (NP_001104262) |
p.(Lys343Arg) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296287T>C |
Mutation type | missense |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.992A>G | p.Lys331Arg | Female | Rett syndrome-congenital | 4593 | Early infantile onset congenital Rett syndrome variants: Swedish experience through four decades and mutation analysis:Rajaei, S., Erlandson, A., Kyllerman, M., Albage, M., Lundstrom, I., Karrstedt, E.-L., Hagberg, B.:Journal of Child Neurology: 21212452 | View details |
2 | c.992A>G | p.Lys331Arg | Male | Not Rett synd. | 4594 | Early infantile onset congenital Rett syndrome variants: Swedish experience through four decades and mutation analysis:Rajaei, S., Erlandson, A., Kyllerman, M., Albage, M., Lundstrom, I., Karrstedt, E.-L., Hagberg, B.:Journal of Child Neurology: 21212452 | View details |