Proband information



Proband id 6666
Systematic Name c.*14G>A
Protein name 3'UTR variation
Mutation type 3'UTR variation
Domain 3'UTR
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA Blood
Carrier Y
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 Reference
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 :::