Variant information


Systematic Name c.*14G>A
Protein name 3'UTR variation
Mutation type 3'UTR variation
Domain 3'UTR
Pathogenicity Unknown

Proband information


Source of DNA Blood
Detection direct
Extent all exons
Evidence of Pathogenicity
Carrier status checked Yes
Carrier result in daughter with forme fruste
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-unaffected family member
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.*14G>A 3'UTR variation 3'UTR variation 3'UTR Unknown 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
2 c.*14G>A 3'UTR variation 3'UTR variation 3'UTR Unknown Female Not Rett synd. 6666 :::
3 c.*14G>A 3'UTR variation 3'UTR variation 3'UTR Unknown Female Rett syndrome-forme fruste 6665 :::