Variant information


Systematic Name c.1288C>T
Protein name p.Pro430Ser
Mutation type missense
Domain C-term
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA blood
Detection SSCP
Extent 90% coding sequence
Number of chromosomes checked 100 chromosomes tested and not found in 100 chromosomes
Carrier status checked Yes
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 Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1288C>T p.Pro430Ser missense C-term Polymorphism not causing disease Male 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 missense C-term Polymorphism not causing disease Female 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 missense C-term Polymorphism not causing disease Male 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 missense C-term Polymorphism not causing disease Female 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 missense C-term Polymorphism not causing disease Female 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