Proband information
Proband id | 3796 |
---|---|
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 |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier | |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | not known |
Phenotype-class | Rett syndrome-not certain |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
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 |