Proband information

Proband id 6590
Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
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 Gender Carrier result Phenotype Proband id Reference
1 c.518C>G p.Pro173Arg Female brother and father tested normal; mother is a carrier for 518C-G; p.P173R Not Known 4466 :Das, S., Dempsey, M. U. Chicago::
2 c.518C>G p.Pro173Arg Female Not Rett synd. 4467 :Das, S., Dempsey, M. U. Chicago::
3 c.518C>G p.Pro173Arg Female Not Known 4468 :Das, S., Dempsey, M. U. Chicago::
4 c.518C>G p.Pro173Arg Female in daughter with classic RTT Not Rett synd. 6590 :::