Project HERA
PRKN variants
Every PRKN variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.
PRKN variants
Newest first. Each row opens the full report, criterion by criterion.
Variant
Protein change
Classification
PRKN
NM_004562.2:c.758G>A
NP_004553.2:p.(C253Y)
Likely Pathogenic
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PRKN
NM_004562.2:c.758G>A
NP_004553.2:p.(C253Y)
Likely Pathogenic
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PRKN
NM_004562.2:c.758G>A
NP_004553.2:p.(C253Y)
Likely Pathogenic
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PRKN
NM_004562.2:c.758G>A
NP_004553.2:p.(C253Y)
Likely Pathogenic
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PRKN
NM_004562.2:c.1204C>T
NP_004553.2:p.(R402C)
Likely Benign
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PRKN
NM_004562.2:c.758G>A
NP_004553.2:p.(C253Y)
Likely Pathogenic
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