Variant information



Systematic Name c.499C>T
Protein name p.Arg167Trp
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.499C>T p.Arg167Trp Missense Inter-domain region Unknown Male Not Rett synd. 1013
2 c.499C>T p.Arg167Trp missense inter-domain region Unknown Female Not Known 4458
3 c.499C>T p.Arg167Trp missense inter-domain region Unknown Female Not Rett synd. 4459
4 c.499C>T p.Arg167Trp missense inter-domain region Unknown Female Not Known 4460
5 c.499C>T p.Arg167Trp missense Inter-domain Unknown Male Not Rett synd. 6591