Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Human Genetics Group at Institute of Prion Diseases London, |
RCV000736262 | SCV000864559 | likely pathogenic | Alzheimer disease | 2017-02-01 | criteria provided, single submitter | research | not on exac. not on molgen, but 2 mutations at same locus pathogenic (one change to Arg, one to His); these are both charged aminoacid in a transmembrane domain and Proline is a special case, but with a very different sidechain from Gln |