rs2076985517

This variant is located in the UNC13A gene.

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ClinVar annotation

Likely Pathogenic★★★☆

6 submitters3 publications

not provided; Developmental regression;Delayed speech and language development;Cerebellar ataxia;Tremor;Febrile seizure (within the age range of 3 months to 6 years); UNC13A-associated disorder; Neurodevelopmental disorder; NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY, MOVEMENT ABNORMALITIES, AND SEIZURES

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About UNC13A

This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Feb 2012]

View all UNC13A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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