Variant information


Systematic Name c.1141C>T
Protein name p.Pro381Ser
Mutation type missense
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA Blood
Detection direct
Extent all exons
Evidence of Pathogenicity
Carrier status checked N
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-preserved speech
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1141C>T p.Pro381Ser missense C-term Unknown Female Rett syndrome-preserved speech 6615 :::