Variant information



Systematic Name c.514C>T
Protein name p.Pro172Ser
Mutation type missense
Domain inter-domain region
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.514C>T p.Pro172Ser missense inter-domain region Unknown Male Not Rett synd. 2746
2 c.514C>T p.Pro172Ser missense inter-domain region Unknown Female Not Rett synd. 3937