Proband information
Proband id | 2626 |
---|---|
Systematic Name (NM_004992.3:) |
c.1162C>T |
Protein name (NP_004983) |
p.Pro388Ser |
Alternate systematic Name (NM_001110792.1:) |
c.1198C>T |
Alternate Protein name (NP_001104262) |
p.(Pro400Ser) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296117G>A |
Mutation type | missense |
Domain | c-term |
Pathogenicity | Unknown |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 1-4 |
Source of DNA | blood |
Carrier | N |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-Classical |
Reference | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1162C>T | p.Pro388Ser | Female | Rett syndrome-Classical | 2626 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 | |
2 | c.1162C>T | p.Pro388Ser | Female | de novo | Rett syndrome-congenital onset | 2857 | Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nistic̣, R., Mangone, L.:American Journal of Medical Genetics: 12567420 |
3 | c.1162C>T | p.Pro388Ser | Male | Mother carrier | Not Rett synd. | 7003 | Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation:Zhu Wen, Tian-Lin Cheng, Gai-zhi Li, Shi-Bang Sun, Shun-Ying Yu, Yi Zhang, Ya-Song Du and Zilong Qiu:Molecular Autism: 28785396 |