TSEN34 Chromosome 19
TRNA splicing endonuclease subunit 34
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What This Gene Does
This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor. A mutation in this gene results in the neurological disorder pontocerebellar hypoplasia type 2. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
tRNA-splicing endonuclease subunits
Locus Type
gene with protein product
Location
19q13.42
Ensembl
ENSG00000170892
Associated Conditions (3)
Pontoneocerebellar hypoplasia
Pontocerebellar hypoplasia type 2C
TSEN34-related disorder
Key Variants
RS148706818
Conflicting classifications of pathogenicity
Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
Health Risk
RS200004897
Conflicting classifications of pathogenicity
Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
Health Risk
RS200274242
Conflicting classifications of pathogenicity
Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
Health Risk
RS200626822
Conflicting classifications of pathogenicity
Health Risk
RS375366303
Conflicting classifications of pathogenicity
Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
Health Risk
RS376153530
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 2C, Pontocerebellar hypoplasia type 2C
Health Risk
RS573039542
Conflicting classifications of pathogenicity
Health Risk
RS749845322
Conflicting classifications of pathogenicity
Pontoneocerebellar hypoplasia, TSEN34-related disorder, Pontoneocerebellar hypoplasia
Health Risk
RS770771466
Conflicting classifications of pathogenicity
Health Risk
RS1246937494
Likely pathogenic
Pontocerebellar hypoplasia type 2C, Pontocerebellar hypoplasia type 2C
Health Risk
RS113994150
Pathogenic
Pontocerebellar hypoplasia type 2C, Pontocerebellar hypoplasia type 2C
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148706818 | Health Risk | Conflicting classifications of pathogenicity | Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia |
| RS200004897 | Health Risk | Conflicting classifications of pathogenicity | Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia |
| RS200274242 | Health Risk | Conflicting classifications of pathogenicity | Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia |
| RS200626822 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375366303 | Health Risk | Conflicting classifications of pathogenicity | Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia |
| RS376153530 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 2C, Pontocerebellar hypoplasia type 2C |
| RS573039542 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS749845322 | Health Risk | Conflicting classifications of pathogenicity | Pontoneocerebellar hypoplasia, TSEN34-related disorder, Pontoneocerebellar hypoplasia |
| RS770771466 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1246937494 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia type 2C, Pontocerebellar hypoplasia type 2C |
| RS113994150 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 2C, Pontocerebellar hypoplasia type 2C |