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 all exons
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations
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 :::