Variant information


Systematic Name c.515C>T
Protein name p.Pro172Leu
Mutation type missense
Domain inter-domain region
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA blood
Detection direct
Extent exons 1-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial
Phenotype-class Not Rett synd.-unaffected family member
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.515C>T p.Pro172Leu missense inter-domain region Polymorphism not causing disease Female Not Rett synd. 4179 :::
2 c.515C>T p.Pro172Leu missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 4180 :::