Proband information


Proband id 5143
Systematic Name
(NM_004992.3:)
c.377+28A>G
Protein name
(NP_004983)
intronic variation
Alternate systematic Name
(NM_001110792.1:)
c.413+28A>G
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153297630T>C
Mutation type intronic variation
Domain intronic
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity 1380 chromosomes tested and not found in 1379 chromosomes
Detection CSGE
Extent exons 3-4
Source of DNA not stated
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-normal control
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.377+28A>G intronic variation Unknown Not Rett synd. 5143 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