UNC13D: c.1755_1756insT p.His586Serfs*31


Bibliography:

Biallelic:

-

Monoallelic:

Yes

Described >1 patient:

-

Functional Studies:

Yes

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Interpreting the variant


Learn more about the variant

Clinical Evidence ClinVar -
UniProt -
Biological Relevance Affected functional residues domain C2 2, domain MHD1, domain MHD2
Variant Information dbSNP -
Ensembl -
Population Allele Frequency ExAC -
gnomAD -

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