Variant information


Systematic Name
(NM_004992.3:)		 c.*14G>A
Protein name
(NP_004983)		 3'UTR variation
Alternate systematic Name
(NM_001110792.1:)		 c.*14G>A
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295804C>T
Mutation type 3'UTR variation
Domain 3'UTR
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.*14G>A 3'UTR variation Female Rett syndrome-not certain 5226 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
2 c.*14G>A 3'UTR variation Female Not Rett synd. 6666 ::: View details
3 c.*14G>A 3'UTR variation Female Rett syndrome-forme fruste 6665 ::: View details