Variant information



Systematic Name c.518C>G
Protein name p.Pro173Arg
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.518C>G p.Pro173Arg missense inter-domain region Unknown Female Not Known 4466
2 c.518C>G p.Pro173Arg missense inter-domain region Unknown Female Not Rett synd. 4467
3 c.518C>G p.Pro173Arg missense inter-domain region Unknown Female Not Known 4468
4 c.518C>G p.Pro173Arg missense Inter-domain Unknown Female Not Rett synd. 6590