UNC13D: c.1204C>G p.Leu402Val


Bibliography:

Biallelic:

-

Monoallelic:

Yes

Described >1 patient:

Yes

Functional Studies:

Yes

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Interpreting the variant


Learn more about the variant

Clinical Evidence ClinVar -
UniProt -
Biological Relevance Functional residue Interaction with RAB27A
Variant Information dbSNP rs568125844
Ensembl variant
Population Allele Frequency ExAC 0.000132
gnomAD 0.000112

Explore the biomedical information

Disease Protein Gene
DECIPHER Reactome Ensembl
HPO STRING GeneCards
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