Variant information


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

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1288C>T p.Pro430Ser 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 View details
2 c.1288C>T p.Pro430Ser 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 View details
3 c.1288C>T p.Pro430Ser 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 View details
4 c.1288C>T p.Pro430Ser 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 View details
5 c.1288C>T p.Pro430Ser 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 View details