Proband information


Proband id 3935
Systematic Name
(NM_004992.3:)
c.377+24C>A
Protein name
(NP_004983)
intronic variation
Alternate systematic Name
(NM_001110792.1:)
c.413+24C>A
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153297634G>T
Mutation type intronic variation
Domain intronic
Pathogenicity Unknown
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection direct
Extent exons1, 3-4
Source of DNA blood
Carrier Y
Carrier result in mother and grandmother, not maternal normal uncles
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial not known
Phenotype-class Not Rett synd.-unaffected family member
Reference Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Reboušas, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.377+24C>A intronic variation Male in mother and grandmother, not maternal normal uncles Not Rett synd. 2745 Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Reboušas, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570
2 c.377+24C>A intronic variation Female in mother and grandmother, not maternal normal uncles Not Rett synd. 3935 Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Reboušas, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570
3 c.377+24C>A intronic variation Female in mother and grandmother, not maternal normal uncles Not Rett synd. 3936 Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Reboušas, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570