TRIP13 Chromosome 5
Thyroid hormone receptor interactor 13
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What This Gene Does
This gene encodes a protein that interacts with thyroid hormone receptors, also known as hormone-dependent transcription factors. The gene product interacts specifically with the ligand binding domain. This gene is one of several that may play a role in early-stage non-small cell lung cancer. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
AAA ATPases
Locus Type
gene with protein product
Location
5p15.33
Ensembl
ENSG00000071539
Associated Conditions (2)
Oocyte maturation defect 9
Mosaic variegated aneuploidy syndrome 3
Key Variants
RS148312124
Conflicting classifications of pathogenicity
Health Risk
RS780778324
Conflicting classifications of pathogenicity
Oocyte maturation defect 9, Mosaic variegated aneuploidy syndrome 3, Oocyte maturation defect 9
Health Risk
RS1131692330
Pathogenic
Mosaic variegated aneuploidy syndrome 3, Mosaic variegated aneuploidy syndrome 3
Health Risk
RS1203102465
Pathogenic
Oocyte maturation defect 9, Oocyte maturation defect 9
Health Risk
RS1754056948
Pathogenic
Oocyte maturation defect 9, Oocyte maturation defect 9
Health Risk
RS376882637
Pathogenic
Mosaic variegated aneuploidy syndrome 3, Mosaic variegated aneuploidy syndrome 3
Health Risk
RS759712974
Pathogenic
Oocyte maturation defect 9, Oocyte maturation defect 9
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148312124 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780778324 | Health Risk | Conflicting classifications of pathogenicity | Oocyte maturation defect 9, Mosaic variegated aneuploidy syndrome 3, Oocyte maturation defect 9 |
| RS1131692330 | Health Risk | Pathogenic | Mosaic variegated aneuploidy syndrome 3, Mosaic variegated aneuploidy syndrome 3 |
| RS1203102465 | Health Risk | Pathogenic | Oocyte maturation defect 9, Oocyte maturation defect 9 |
| RS1754056948 | Health Risk | Pathogenic | Oocyte maturation defect 9, Oocyte maturation defect 9 |
| RS376882637 | Health Risk | Pathogenic | Mosaic variegated aneuploidy syndrome 3, Mosaic variegated aneuploidy syndrome 3 |
| RS759712974 | Health Risk | Pathogenic | Oocyte maturation defect 9, Oocyte maturation defect 9 |