Proband information

Proband id 4468
Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type missense
Domain inter-domain region
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Source of DNA Blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Phenotype-class Not Known
Reference :Das, S., Dempsey, M. U. Chicago::

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 :::