Tubulointerstitial kidney disease
Gene: MT-TV
MT-TV (mitochondrially encoded tRNA valine)
EnsemblGeneIds (GRCh38): ENSG00000210077
EnsemblGeneIds (GRCh37): ENSG00000210077
OMIM: 590105, Gene2Phenotype
MT-TV is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000210077
EnsemblGeneIds (GRCh37): ENSG00000210077
OMIM: 590105, Gene2Phenotype
MT-TV is in 8 panels
1 review
Una Conka-Priedeslaipa (Children's Clinical University Hospital)
In 27,747 participants from the Mount Sinai Million Health Discoveries Program, an ancestrally diverse biobank with whole-exome sequencing and linked electronic health records, the MT-TV m.1630A>G variant was observed in 4 individuals with kidney disease and 6 without kidney disease and was significantly associated with kidney disease risk (OR = 5.63, 95% CI: 1.28–22.89, P = 0.016).
Sources: LiteratureCreated: 29 May 2026, 6:30 a.m.
Mode of inheritance
MITOCHONDRIAL
Publications
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- OMIM
- 590105
- Clinvar variants
- Variants in MT-TV
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
29 May 2026, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications
Una Conka-Priedeslaipa (Children's Clinical University Hospital)gene: MT-TV was added gene: MT-TV was added to Tubulointerstitial kidney disease. Sources: Literature Mode of inheritance for gene gene: MT-TV was set to MITOCHONDRIAL Publications for gene: MT-TV were set to https://www.sciencedirect.com/science/article/pii/S246802492602810X