Variant information


Systematic Name c.341G>C
Protein name p.Gly114Ala
Mutation type Missense
Domain MBD
Pathogenicity Unknown

Proband information


Source of DNA Blood
Detection Direct sequencing or DHPLC
Extent Exons 2-4
Evidence of Pathogenicity
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-Not certain
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.341G>C p.Gly114Ala Missense MBD Unknown Female Rett syndrome-Not certain 1884 :::