Variant information


Systematic Name c.55C>T
Protein name p.Gln19*
Mutation type Nonsense
Domain N-term
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 Neither parent has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Atypical
Reference Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome:Kim, Soo-Jeong, Cook, Edwin H.:Human mutation: 10737989

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.55C>T p.Gln19* Nonsense N-term Mutation associated with disease Female Rett syndrome-Atypical 1264 Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome:Kim, Soo-Jeong, Cook, Edwin H.:Human mutation: 10737989
2 c.55C>T p.Gln19* nonsense N-term Mutation associated with disease Female Not Known 4469 :Das, S., Dempsey, M. U. Chicago::