THUMPD1 Chromosome 16
THUMP domain 1 NAT10 acetyltransferase adaptor
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What This Gene Does
Enables RNA binding activity. Predicted to be involved in tRNA modification. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (3)
Neurodevelopmental disorder
Neurodevelopmental disorder with speech delay and variable ocular anomalies
Inborn genetic diseases
Key Variants
RS778649204
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, Neurodevelopmental disorder with speech delay and variable ocular anomalies, Inborn genetic diseases
Health Risk
RS772419789
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder with speech delay and variable ocular anomalies, Neurodevelopmental disorder
Health Risk
RS1470272788
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS151261045
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2152417708
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder with speech delay and variable ocular anomalies, Neurodevelopmental disorder
Health Risk
RS2152417882
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder with speech delay and variable ocular anomalies, Neurodevelopmental disorder
Health Risk
RS2152417926
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2152419456
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder with speech delay and variable ocular anomalies, Neurodevelopmental disorder
Health Risk
RS2549312956
Pathogenic
Neurodevelopmental disorder with speech delay and variable ocular anomalies, Neurodevelopmental disorder with speech delay and variable ocular anomalies
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS778649204 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, Neurodevelopmental disorder with speech delay and variable ocular anomalies, Inborn genetic diseases |
| RS772419789 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder with speech delay and variable ocular anomalies, Neurodevelopmental disorder |
| RS1470272788 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS151261045 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2152417708 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder with speech delay and variable ocular anomalies, Neurodevelopmental disorder |
| RS2152417882 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder with speech delay and variable ocular anomalies, Neurodevelopmental disorder |
| RS2152417926 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2152419456 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder with speech delay and variable ocular anomalies, Neurodevelopmental disorder |
| RS2549312956 | Health Risk | Pathogenic | Neurodevelopmental disorder with speech delay and variable ocular anomalies, Neurodevelopmental disorder with speech delay and variable ocular anomalies |