Proband information
Proband id | 3989 |
---|---|
Systematic Name (NM_004992.3:) |
c.1072G>A |
Protein name (NP_004983) |
p.Ala358Thr |
Alternate systematic Name (NM_001110792.1:) |
c.1108G>A |
Alternate Protein name (NP_001104262) |
p.(Ala370Thr) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296207C>T |
Mutation type | missense |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | 100 chromosomes tested and not found in 100 chromosomes |
Detection | direct |
Extent | all exons |
Source of DNA | blood |
Carrier | Y |
Carrier result | in daughter with Rett syndrome |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | not known |
Phenotype-class | Not Rett synd.-unaffected family member |
Reference | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1072G>A | p.Ala358Thr | Female | maternal | Rett syndrome-not certain | 3566 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
2 | c.1072G>A | p.Ala358Thr | Male | Not Rett synd. | 3810 | Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorder:Wong, V.C.N., Li, S.Y.H.:Journal of Child Neurology: 18174559 | |
3 | c.1072G>A | p.Ala358Thr | Female | in daughter with Rett syndrome | Not Rett synd. | 3989 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
4 | c.1072G>A | p.Ala358Thr | Female | in unaffected father | Not Rett synd. | 4892 | Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191 |
5 | c.1072G>A | p.Ala358Thr | Male | in daughter with mental retardation | Not Rett synd. | 4893 | Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191 |