Variant information


Systematic Name
(NM_004992.3:)		 c.1234G>A
Protein name
(NP_004983)		 p.Val412Ile
Alternate systematic Name
(NM_001110792.1:)		 c.1270G>A
Alternate Protein name
(NP_001104262)		 p.(Val424Ile)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296045C>T
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.1234G>A p.Val412Ile Female Rett syndrome-Not certain 1143 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 View details
2 c.1234G>A p.Val412Ile Male Not Known 2147 :Cardiff, UK:: View details
3 c.1234G>A p.Val412Ile Female Not Rett synd. 2148 :Cardiff, UK:: View details
4 c.1234G>A p.Val412Ile Unknown Not Rett synd. 5219 MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759 View details
5 c.1234G>A p.Val412Ile Unknown Not Rett synd. 5220 MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759 View details