UNC13D: c.766C>T p.Arg256*
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Interpreting the variant
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Clinical Evidence | ClinVar | Pathogenic (criteria provided, multiple submitters, no conflicts) |
UniProt | - | |
Biological Relevance | Affected functional residues | domain C2 2, domain MHD1, domain MHD2, Interaction with RAB27A |
Variant Information | dbSNP | rs121434352 |
Ensembl | variant | |
Population Allele Frequency | ExAC | 3.4e-05 |
gnomAD | 2.5e-05 |