TOGARAM1 Chromosome 14
TOG array regulator of axonemal microtubules 1
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What This Gene Does
Predicted to enable microtubule binding activity. Involved in cilium assembly. Located in axoneme. Implicated in Joubert syndrome. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
TOG domain containing
Locus Type
gene with protein product
Location
14q21.2
Ensembl
ENSG00000198718
Associated Conditions (2)
Joubert syndrome
Joubert syndrome 37
Key Variants
RS141100163
Conflicting classifications of pathogenicity
Health Risk
RS150433582
Conflicting classifications of pathogenicity
Joubert syndrome, Joubert syndrome 37, Joubert syndrome
Health Risk
RS370676288
Conflicting classifications of pathogenicity
Joubert syndrome, Joubert syndrome
Health Risk
RS745704336
Conflicting classifications of pathogenicity
Joubert syndrome, Joubert syndrome 37, Joubert syndrome
Health Risk
RS1037051745
Likely pathogenic
Joubert syndrome 37, Joubert syndrome 37
Health Risk
RS970839121
Likely pathogenic
Health Risk
RS987763947
Likely pathogenic
Joubert syndrome 37, Joubert syndrome 37
Health Risk
RS990850363
Likely pathogenic
Health Risk
RS1463041654
Pathogenic
Joubert syndrome, Joubert syndrome 37, Joubert syndrome
Health Risk
RS1885329722
Pathogenic
Joubert syndrome, Joubert syndrome 37, Joubert syndrome
Health Risk
RS368448387
Pathogenic
Joubert syndrome, Joubert syndrome 37, Joubert syndrome
Health Risk
RS370236552
Pathogenic
Joubert syndrome 37, Joubert syndrome 37
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141100163 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150433582 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome 37, Joubert syndrome |
| RS370676288 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome |
| RS745704336 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome 37, Joubert syndrome |
| RS1037051745 | Health Risk | Likely pathogenic | Joubert syndrome 37, Joubert syndrome 37 |
| RS970839121 | Health Risk | Likely pathogenic | — |
| RS987763947 | Health Risk | Likely pathogenic | Joubert syndrome 37, Joubert syndrome 37 |
| RS990850363 | Health Risk | Likely pathogenic | — |
| RS1463041654 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome 37, Joubert syndrome |
| RS1885329722 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome 37, Joubert syndrome |
| RS368448387 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome 37, Joubert syndrome |
| RS370236552 | Health Risk | Pathogenic | Joubert syndrome 37, Joubert syndrome 37 |
| RS759684383 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome 37, Joubert syndrome |