Proband information
Proband id | 1011 |
---|---|
Systematic Name (NM_004992.3:) |
c.686C>T |
Protein name (NP_004983) |
p.Ser229Leu |
Alternate systematic Name (NM_001110792.1:) |
c.722C>T |
Alternate Protein name (NP_001104262) |
p.(Ser241Leu) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296593G>A |
Mutation type | Missense |
Domain | TRD |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | |
Detection | Direct |
Extent | Exons 2-4 plus 5'UTR |
Source of DNA | blood |
Carrier | |
Carrier result | |
Other mutations | Y |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Sporadic |
Phenotype-class | Rett syndrome-Classical |
Reference | Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location:Cheadle, Jeremy P., Gill, Harinder, Fleming, Nick, Maynard, Julie, Kerr, Alison, Leonard, Helen, Krawczak, Michael, Cooper, David N., Lynch, Sally, Thomas, Nick, Hughes, Helen, Hulten, Maj, Ravine, David, Sampson, Julian R. and Clarke, Angus:Human Molecular Genetics: 10767337 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.686C>T | p.Ser229Leu | Female | Rett syndrome-Classical | 1011 | Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location:Cheadle, Jeremy P., Gill, Harinder, Fleming, Nick, Maynard, Julie, Kerr, Alison, Leonard, Helen, Krawczak, Michael, Cooper, David N., Lynch, Sally, Thomas, Nick, Hughes, Helen, Hulten, Maj, Ravine, David, Sampson, Julian R. and Clarke, Angus:Human Molecular Genetics: 10767337 | |
2 | c.686C>T | p.Ser229Leu | Male | Affected daughter has variation | Not Rett synd. | 1222 | Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location:Cheadle, Jeremy P., Gill, Harinder, Fleming, Nick, Maynard, Julie, Kerr, Alison, Leonard, Helen, Krawczak, Michael, Cooper, David N., Lynch, Sally, Thomas, Nick, Hughes, Helen, Hulten, Maj, Ravine, David, Sampson, Julian R. and Clarke, Angus:Human Molecular Genetics: 10767337 |
3 | c.686C>T | p.Ser229Leu | Female | Rett syndrome-Classical | 2633 | 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 | |
4 | c.686C>T | p.Ser229Leu | Male | Not Rett synd. | 3025 | Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644 | |
5 | c.686C>T | p.Ser229Leu | Female | mother tested normal | Not Known | 4476 | :Das, S., Dempsey, M. U. Chicago:: |
6 | c.686C>T | p.Ser229Leu | Male | Not Known | 4477 | :Das, S., Dempsey, M. U. Chicago:: |