Variant information


Systematic Name c.736_743delinsGTG
Protein name p.Met246fs
Mutation type frameshift combined insertion and deletion
Domain TRD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection direct
Extent
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
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.736_743delinsGTG p.Met246fs frameshift combined insertion and deletion TRD Mutation associated with disease Female Not Known 4479 :Das, S., Dempsey, M. U. Chicago::