TRNT1 Chromosome 3
TRNA nucleotidyl transferase 1
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What This Gene Does
The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3' terminus of tRNA molecules. Mutations in this gene result in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Associated Conditions (8)
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Inborn genetic diseases
Retinitis pigmentosa and erythrocytic microcytosis
TRNT1-related disorder
Retinal dystrophy
Clear cell carcinoma of kidney
Developmental and epileptic encephalopathy
57
Key Variants
RS116700675
Conflicting classifications of pathogenicity
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Inborn genetic diseases, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Health Risk
RS140935012
Conflicting classifications of pathogenicity
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Inborn genetic diseases, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Health Risk
RS146717589
Conflicting classifications of pathogenicity
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Health Risk
RS148398677
Conflicting classifications of pathogenicity
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Retinitis pigmentosa and erythrocytic microcytosis, Inborn genetic diseases
Health Risk
RS150984011
Conflicting classifications of pathogenicity
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Health Risk
RS187921784
Conflicting classifications of pathogenicity
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Retinitis pigmentosa and erythrocytic microcytosis, TRNT1-related disorder
Health Risk
RS200056840
Conflicting classifications of pathogenicity
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Inborn genetic diseases, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Health Risk
RS368078167
Conflicting classifications of pathogenicity
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Retinitis pigmentosa and erythrocytic microcytosis, TRNT1-related disorder
Health Risk
RS375726663
Conflicting classifications of pathogenicity
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Inborn genetic diseases, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Health Risk
RS747469885
Conflicting classifications of pathogenicity
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Inborn genetic diseases, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Health Risk
RS759496973
Conflicting classifications of pathogenicity
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Health Risk
RS759826831
Conflicting classifications of pathogenicity
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Inborn genetic diseases, Retinal dystrophy
Health Risk
All Variants (77)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS369179242 | Health Risk | Pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS370011798 | Health Risk | Pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, TRNT1-related disorder, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS529290186 | Health Risk | Pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS606231287 | Health Risk | Pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS606231289 | Health Risk | Pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS606231290 | Health Risk | Pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS606231291 | Health Risk | Pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS749437475 | Health Risk | Pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS755536381 | Health Risk | Pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS762873423 | Health Risk | Pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS763685455 | Health Risk | Pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Retinal dystrophy, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS769331677 | Health Risk | Pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS770760147 | Health Risk | Pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS772722561 | Health Risk | Pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Retinal dystrophy, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS776199133 | Health Risk | Pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS876661299 | Health Risk | Pathogenic | Retinitis pigmentosa and erythrocytic microcytosis, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Retinitis pigmentosa and erythrocytic microcytosis |
| RS941664466 | Health Risk | Pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS1449106096 | Health Risk | Pathogenic/Likely pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS1553554007 | Health Risk | Pathogenic/Likely pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS199931785 | Health Risk | Pathogenic/Likely pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Retinitis pigmentosa and erythrocytic microcytosis, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS370699359 | Health Risk | Pathogenic/Likely pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Retinitis pigmentosa and erythrocytic microcytosis, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS372367989 | Health Risk | Pathogenic/Likely pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Developmental and epileptic encephalopathy, 57 |
| RS746154279 | Health Risk | Pathogenic/Likely pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, TRNT1-related disorder, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS754883449 | Health Risk | Pathogenic/Likely pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Retinitis pigmentosa and erythrocytic microcytosis, TRNT1-related disorder |
| RS769317780 | Health Risk | Pathogenic/Likely pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Retinal dystrophy, TRNT1-related disorder |
| RS772805677 | Health Risk | Pathogenic/Likely pathogenic | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Retinitis pigmentosa and erythrocytic microcytosis, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| RS876661298 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa and erythrocytic microcytosis, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Retinitis pigmentosa and erythrocytic microcytosis |