Proband information



Proband id 6590
Systematic Name c.518C>G
Protein name p.Pro173Arg
Mutation type missense
Domain Inter-domain
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA Blood
Carrier Y
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 Reference
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 :::