Variant information


Systematic Name c.518C>G
Protein name p.Pro173Arg
Mutation type missense
Domain Inter-domain
Pathogenicity Unknown

Proband information


Source of DNA Blood
Detection direct
Extent all exons
Number of chromosomes checked
Carrier status checked Yes
Carrier result in daughter with classic RTT
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
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.518C>G p.Pro173Arg missense inter-domain region Unknown Female Not Known 4466 :Das, S., Dempsey, M. U. Chicago::
2 c.518C>G p.Pro173Arg missense inter-domain region Unknown Female Not Rett synd. 4467 :Das, S., Dempsey, M. U. Chicago::
3 c.518C>G p.Pro173Arg missense inter-domain region Unknown Female Not Known 4468 :Das, S., Dempsey, M. U. Chicago::
4 c.518C>G p.Pro173Arg missense Inter-domain Unknown Female Not Rett synd. 6590 :::