UNC13A Chromosome 19
Unc-13 homolog A
Upload your DNA to see your personal genotypes for variants in UNC13A.
What This Gene Does
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]
Gene Info
Gene Group
UNC13 homologs
Locus Type
gene with protein product
Location
19p13.11
Ensembl
ENSG00000130477
Associated Conditions (14)
UNC13A-related disorder
Amyotrophic lateral sclerosis
Neurodevelopmental disorder
UNC13A-associated neurodevelopmental disorder
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 WITH SPEECH DELAY
MOVEMENT ABNORMALITIES
AND SEIZURES
Amyotrophic lateral sclerosis type 1
Key Variants
RS1057517677
Conflicting classifications of pathogenicity
UNC13A-related disorder, UNC13A-related disorder
Health Risk
RS148883310
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis, UNC13A-related disorder, Amyotrophic lateral sclerosis
Health Risk
RS199919434
Conflicting classifications of pathogenicity
Health Risk
RS200561053
Conflicting classifications of pathogenicity
UNC13A-related disorder, UNC13A-related disorder
Health Risk
RS2076957024
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, UNC13A-associated neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2076985517
Likely pathogenic
Developmental regression, Delayed speech and language development, Cerebellar ataxia
Health Risk
RS2513075471
Likely pathogenic
Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057517677 | Health Risk | Conflicting classifications of pathogenicity | UNC13A-related disorder, UNC13A-related disorder |
| RS148883310 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis, UNC13A-related disorder, Amyotrophic lateral sclerosis |
| RS199919434 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200561053 | Health Risk | Conflicting classifications of pathogenicity | UNC13A-related disorder, UNC13A-related disorder |
| RS2076957024 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, UNC13A-associated neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2076985517 | Health Risk | Likely pathogenic | Developmental regression, Delayed speech and language development, Cerebellar ataxia |
| RS2513075471 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |