Variant information


Systematic Name c.674C>T
Protein name p.Pro225Leu
Mutation type Missense
Domain TRD
Pathogenicity Unknown

Proband information


Source of DNA Blood
Detection SSCP
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-Classical
Reference Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canůs, I., Pineda, M.:Brain and Development: 11738885

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.674C>T p.Pro225Leu Missense TRD Unknown Male Rett syndrome-Male variant 1659 Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2):Moog, Ute, Smeets, Eric E. J., Van Roozendaal, Kees E. P., Schoenmakers, Sam, Herbergs, Jos, Schoonbrood-Lessen, Anneke M. J., Schrander-Stumpel, Connie T. R. M.:European Journal of Paediatric Neurology: 12615169
2 c.674C>T p.Pro225Leu Missense TRD Unknown Female Rett syndrome-Classical 2429 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canůs, I., Pineda, M.:Brain and Development: 11738885