Variant information


Systematic Name c.378-2A>C
Protein name intronic variation
Mutation type Intronic variation
Domain Intronic
Pathogenicity Mutation associated with disease

Proband information


Source of DNA
Detection
Extent
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, CÚcile, Jonveaux, Philippe:Human genetics: 11214906

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.378-2A>C intronic variation Intronic variation Intronic Mutation associated with disease Unknown Rett syndrome-Not certain 253 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, CÚcile, Jonveaux, Philippe:Human genetics: 11214906
2 c.378-2A>C intronic variation Intronic variation Intronic Mutation associated with disease Female Not Known 1677 :Friez, Michael::
3 c.378-2A>C intronic variation intronic variation intronic Mutation associated with disease Female Rett syndrome-classical 6603 :::