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