Variant information


Systematic Name
(NM_004992.3:)		 c.752C>T
Protein name
(NP_004983)		 p.Pro251Leu
Alternate systematic Name
(NM_001110792.1:)		 c.788C>T
Alternate Protein name
(NP_001104262)		 p.(Pro263Leu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296527G>A
Mutation type Missense
Domain TRD
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.752C>T p.Pro251Leu Male Not Rett synd. 149 Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854 View details