Variant information

Systematic Name c.224C>T
Protein name p. Pro75Leu
Mutation type missense
Domain N-term
Pathogenicity Unknown

Proband information

Source of DNA Blood
Detection direct
Number of chromosomes checked
Carrier status checked 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 Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.224C>T p. Pro75Leu missense N-term Unknown Female Not Known 4425 :Das, S., Dempsey, M. U. Chicago::