Proband information
Proband id | 4588 |
---|---|
Systematic Name (NM_004992.3:) |
c.1288C>T |
Protein name (NP_004983) |
p.Pro430Ser |
Alternate systematic Name (NM_001110792.1:) |
c.1324C>T |
Alternate Protein name (NP_001104262) |
p.(Pro442Ser) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295991G>A |
Mutation type | missense |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | 100 chromosomes tested and not found in 100 chromosomes |
Detection | SSCP |
Extent | 90% coding sequence |
Source of DNA | blood |
Carrier | Y |
Carrier result | in mother and grandfather, also 2 maternal aunts |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Male |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-male variant |
Reference | A novel MECP2 change in an Indian boy with variant Rett phenotype and congenital blindness: implications for genetic counseling and prenatal diagnosis:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Journal of Child Neurology: 21285040 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1288C>T | p.Pro430Ser | Male | in mother and grandfather, also 2 maternal aunts | Rett syndrome-male variant | 4588 | A novel MECP2 change in an Indian boy with variant Rett phenotype and congenital blindness: implications for genetic counseling and prenatal diagnosis:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Journal of Child Neurology: 21285040 |
2 | c.1288C>T | p.Pro430Ser | Female | in son with variant RTT and father | Not Rett synd. | 4589 | A novel MECP2 change in an Indian boy with variant Rett phenotype and congenital blindness: implications for genetic counseling and prenatal diagnosis:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Journal of Child Neurology: 21285040 |
3 | c.1288C>T | p.Pro430Ser | Male | in normal daughters and grandson with variant RTT | Not Rett synd. | 4590 | A novel MECP2 change in an Indian boy with variant Rett phenotype and congenital blindness: implications for genetic counseling and prenatal diagnosis:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Journal of Child Neurology: 21285040 |
4 | c.1288C>T | p.Pro430Ser | Female | in father, two sisters and nephew | Not Rett synd. | 4591 | A novel MECP2 change in an Indian boy with variant Rett phenotype and congenital blindness: implications for genetic counseling and prenatal diagnosis:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Journal of Child Neurology: 21285040 |
5 | c.1288C>T | p.Pro430Ser | Female | in father, two sisters and nephew | Not Rett synd. | 4592 | A novel MECP2 change in an Indian boy with variant Rett phenotype and congenital blindness: implications for genetic counseling and prenatal diagnosis:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Journal of Child Neurology: 21285040 |