Variant information


Systematic Name c.1153_1188del36
Protein name p.Pro385_Ser396del
Mutation type in-frame insertion or deletion
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA blood
Detection direct
Extent four exons
Evidence of Pathogenicity
Carrier status checked Not checked
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1153_1188del36 p.Pro385_Ser396del in-frame insertion or deletion C-term Unknown Female Rett syndrome-not certain 4916 Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991