Variant information


Systematic Name MECP2_e1:c.62+2_63+3delTG
Protein name Intronic variation
Mutation type Frameshift deletion
Domain N-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection PCR/diagnostic restriction
Extent
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial NK
Phenotype-class Rett syndrome-male variant
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 MECP2_e1:c.62+2_63+3delTG Intronic variation Frameshift deletion N-term Mutation associated with disease Male Rett syndrome-male variant 5327 :::