Proband information



Proband id 6353
Systematic Name c.27-8C>G
Protein name intronic variation
Mutation type intronic variation
Domain intronic
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA Blood
Carrier 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 Reference
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 :::