Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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(CST3 Ala25Thr)
Short summary
Associated with age-related macular degeneration and alzheimer’s disease.
Impact
Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Inheritance pattern
unknown
Summary of published research, and additional commentary
hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523 het T @ chr20:23618427
hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565 het T @ chr20:23618427
hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598 het T @ chr20:23618427
hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370 het T @ chr20:23618427
huA90CE6 - PGP16 (huA90CE6) build 37, from CGI var (software ver 2.0.2.11) het T @ chr20:23618427
NA12878