Variant information


Systematic Name c.914A>C
Protein name p.Lys305Thr
Mutation type missense
Domain TRD
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 Rett syndrome-classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.914A>C p.Lys305Thr missense TRD Unknown Female Rett syndrome-classical 6617 :::