Variant information


Systematic Name
(NM_004992.3:)
c.378-2A>C
Protein name
(NP_004983)
intronic variation
Alternate systematic Name
(NM_001110792.1:)
c.414-2A>C
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296903T>G
Mutation type Intronic variation
Domain Intronic
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.378-2A>C intronic variation 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 View details
2 c.378-2A>C intronic variation Female Not Known 1677 :Friez, Michael:: View details
3 c.378-2A>C intronic variation Female Rett syndrome-classical 6603 ::: View details