Variant information


Systematic Name c.[423C>G];[=]
Protein name p.[Tyr141*];[=]
Mutation type Nonsense
Domain MBD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection direct
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result Variation not found in parents, variation not found in sister
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Male variant
Reference Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene:Schwartzman, J. S., Bernardino, Andrea, Nishimura, Agnes, Gomes, Raquel R. and Zatz, Mayana:Neuropediatrics: 11521215

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[423C>G];[=] p.[Tyr141*];[=] Nonsense MBD Mutation associated with disease Male Rett syndrome-Male variant 1434 Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene:Schwartzman, J. S., Bernardino, Andrea, Nishimura, Agnes, Gomes, Raquel R. and Zatz, Mayana:Neuropediatrics: 11521215