Variant information


Systematic Name c.1163C>T
Protein name p.Pro388Leu
Mutation type Missense
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA Blood
Detection Direct
Extent Exons 2-4
Number of chromosomes checked 100 chromosomes tested and not found in 100 chromosomes
Carrier status checked Yes
Carrier result Researcher claims neither parent has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Forme fruste
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1163C>T p.Pro388Leu Missense C-term Unknown Female Rett syndrome-Forme fruste 2476 :::
2 c.1163C>T p.Pro388Leu missense C-term Unknown Female Rett syndrome-classical 4100 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578
3 c.1163C>T p.Pro388Leu missense C-term Unknown Female Not Rett synd. 4101 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578