Variant information


Systematic Name c.535C>T
Protein name p.Pro179Ser
Mutation type missense
Domain inter-domain
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 Not Rett synd.-mental retardation
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.535C>T p.Pro179Ser missense inter-domain Unknown Female Not Rett synd. 6588 :::