UNC13D: c.2692del p.Ser898Alafs*17


Bibliography:

Biallelic:

Yes

Monoallelic:

-

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 metal ion-binding site, Disordered, domain C2 2
Variant Information dbSNP -
Ensembl -
Population Allele Frequency ExAC -
gnomAD -

Explore the biomedical information

Disease Protein Gene
DECIPHER Reactome Ensembl
HPO STRING GeneCards
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MalaCards NCBI
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