UNC13D: c.1201_1202delinsAA p.Ser401Asn


Bibliography:

Biallelic:

-

Monoallelic:

Yes

Described >1 patient:

-

Functional Studies:

-

Information from in silico tools

Predictor Score Label
CADD v1.5 nan
PolyPhen-2 0.001 Benign
PON-P2 0.233 Neutral
SIFT 0.096 Tolerated

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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 -
Ensembl -
Population Allele Frequency ExAC -
gnomAD -

Explore the biomedical information

Disease Protein Gene
DECIPHER Reactome Ensembl
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