Proband information
Proband id | 2621 |
---|---|
Systematic Name (NM_004992.3:) |
c.[1063_1188del126; 1189_1231inv; 1232_1236del5] |
Protein name (NP_004983) |
p.Ser355fs |
Alternate systematic Name (NM_001110792.1:) |
c.[1099_1224del126;1225_1267inv;1268_1272del5] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296091_153296216del126;153296048_153296090inv;153296043_153296047del5] |
Mutation type | frameshift insertion or deletion |
Domain | c-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | 200 chromosomes tested and not found in 200 chromosomes |
Detection | direct |
Extent | exons 1-4 |
Source of DNA | blood |
Carrier | Y |
Carrier result | parents negative |
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.[1063_1188del126; 1189_1231inv; 1232_1236del5] | p.Ser355fs | Female | parents negative | Rett syndrome-Classical | 2621 | 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 |