UNC13D: c.2448-8dupC


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 Benign
(criteria provided, multiple submitters, no conflicts)
UniProt -
Biological Relevance Functional residue -
Variant Information dbSNP rs3217698
Ensembl variant
Population Allele Frequency ExAC 0.1615
gnomAD 0.156489

Explore the biomedical information

Disease Protein Gene
DECIPHER Reactome Ensembl
HPO STRING GeneCards
GeneReviews UniProt HGNC
MalaCards NCBI
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