Variant information


Systematic Name c.1255C>T
Protein name p.Pro419Ser
Mutation type missense
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA blood
Detection MPS
Extent
Number of chromosomes checked
Carrier status checked NA
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Not Rett synd.-not certain
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1255C>T p.Pro419Ser missense C-term Unknown Female Not Rett synd. 6912 :::