UNC13D: c.1229_1230dup p.Arg411Serfs*32


Bibliography:

Biallelic:

Yes

Monoallelic:

-

Described >1 patient:

-

Functional Studies:

-

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Interpreting the variant


Learn more about the variant

Clinical Evidence ClinVar -
UniProt -
Biological Relevance Affected functional residues metal ion-binding site, Interaction with RAB27A, domain C2 2, Disordered, domain MHD2, domain MHD1
Variant Information dbSNP rs747180228
Ensembl variant
Population Allele Frequency ExAC -
gnomAD -

Explore the biomedical information

Disease Protein Gene
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