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