Variant information


Systematic Name
(NM_004992.3:)		 c.358T>G
Protein name
(NP_004983)		 p.Tyr120Asp
Alternate systematic Name
(NM_001110792.1:)		 c.394T>G
Alternate Protein name
(NP_001104262)		 p.(Tyr132Asp)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297677A>C
Mutation type missense
Domain MBD
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.358T>G p.Tyr120Asp Female Rett syndrome-not certain 3796 Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome:Inui, K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T, Imai K, Yamada M, Muramatsu T, Sakai N, Okada S:Brain & Development: 11376998 View details