Variant information


Systematic Name c.27-8C>G
Protein name intronic variation
Mutation type Intronic variation
Domain Intronic
Pathogenicity Unknown

Proband information


Source of DNA blood
Detection direct
Extent Exons 2-4
Number of chromosomes checked 80 chromosomes tested and not found in 0 chromosomes
Carrier status checked Yes
Carrier result Mother is not carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.27-8C>G intronic variation Intronic variation Intronic Unknown Female Rett syndrome-Classical 479 :::
2 c.27-8C>G intronic variation intronic variation intronic Unknown Female Rett syndrome-classical 6353 :::