Proband information


Proband id 6665
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
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA Blood
Carrier Y
Carrier result mother has
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-forme fruste
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
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
2 c.*14G>A 3'UTR variation Female in daughter with forme fruste Not Rett synd. 6666 :::
3 c.*14G>A 3'UTR variation Female mother has Rett syndrome-forme fruste 6665 :::