Proband information

Proband id 479
Systematic Name
Protein name
intronic variation
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Intronic variation
Domain Intronic
Pathogenicity Unknown
Evidence of Pathogenicity 80 chromosomes tested and not found in 0 chromosomes
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier Y
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 Gender Carrier result Phenotype Proband id Reference
1 c.27-8C>G intronic variation Female Mother is not carrier Rett syndrome-Classical 479 :::
2 c.27-8C>G intronic variation Female Rett syndrome-classical 6353 :::