Proband information

Proband id 2484
Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection Direct
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Researcher claims neither parent has variation
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.317G>T p.Arg106Leu Female Researcher claims neither parent has variation Rett syndrome-Classical 2484 :::