RMND1 Chromosome 6
Required for meiotic nuclear division 1 homolog
Upload your DNA to see your personal genotypes for variants in RMND1.
What This Gene Does
The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-11. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
Associated Conditions (9)
Combined oxidative phosphorylation defect type 11
Inborn genetic diseases
RMND1-related disorder
Mitochondrial disease
Mitochondrial oxidative phosphorylation disorder
Nephronophthisis
Familial cancer of breast
Abnormality of the nervous system
Melanoma
Key Variants
RS1382069196
Conflicting classifications of pathogenicity
Health Risk
RS142059662
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 11, Inborn genetic diseases, Combined oxidative phosphorylation defect type 11
Health Risk
RS142521318
Conflicting classifications of pathogenicity
Health Risk
RS142588921
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 11, RMND1-related disorder, Combined oxidative phosphorylation defect type 11
Health Risk
RS150706976
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 11, Inborn genetic diseases, RMND1-related disorder
Health Risk
RS186019987
Conflicting classifications of pathogenicity
Health Risk
RS199787718
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201840505
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11
Health Risk
RS377114459
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 11, Inborn genetic diseases, Combined oxidative phosphorylation defect type 11
Health Risk
RS760560618
Conflicting classifications of pathogenicity
Inborn genetic diseases, Combined oxidative phosphorylation defect type 11, Inborn genetic diseases
Health Risk
RS778070352
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11
Health Risk
RS974708373
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (45)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1382069196 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142059662 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 11, Inborn genetic diseases, Combined oxidative phosphorylation defect type 11 |
| RS142521318 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142588921 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 11, RMND1-related disorder, Combined oxidative phosphorylation defect type 11 |
| RS150706976 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 11, Inborn genetic diseases, RMND1-related disorder |
| RS186019987 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199787718 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201840505 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11 |
| RS377114459 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 11, Inborn genetic diseases, Combined oxidative phosphorylation defect type 11 |
| RS760560618 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Combined oxidative phosphorylation defect type 11, Inborn genetic diseases |
| RS778070352 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11 |
| RS974708373 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1427212110 | Health Risk | Likely pathogenic | — |
| RS1554340243 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1582957532 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11 |
| RS1582970514 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11 |
| RS606231472 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11 |
| RS763077801 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11 |
| RS763658299 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11 |
| RS768951837 | Health Risk | Likely pathogenic | — |
| RS771894262 | Health Risk | Likely pathogenic | Mitochondrial disease, Combined oxidative phosphorylation defect type 11, Mitochondrial disease |
| RS1057519299 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11 |
| RS1194763374 | Health Risk | Pathogenic | — |
| RS144972972 | Health Risk | Pathogenic | Mitochondrial disease, Combined oxidative phosphorylation defect type 11, Mitochondrial oxidative phosphorylation disorder |
| RS1728156204 | Health Risk | Pathogenic | — |
| RS1780213490 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11 |
| RS1780213989 | Health Risk | Pathogenic | — |
| RS1780336606 | Health Risk | Pathogenic | Nephronophthisis, Nephronophthisis |
| RS2114938789 | Health Risk | Pathogenic | — |
| RS2485884567 | Health Risk | Pathogenic | — |
| RS2485915480 | Health Risk | Pathogenic | — |
| RS2485939911 | Health Risk | Pathogenic | — |
| RS2485962955 | Health Risk | Pathogenic | — |
| RS370863743 | Health Risk | Pathogenic | Mitochondrial disease, Combined oxidative phosphorylation defect type 11, Mitochondrial disease |
| RS397515421 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 11, Mitochondrial disease, Combined oxidative phosphorylation defect type 11 |
| RS759477396 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11 |
| RS767876357 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11 |
| RS773470671 | Health Risk | Pathogenic | Mitochondrial disease, Familial cancer of breast, Mitochondrial disease |
| RS886037771 | Health Risk | Pathogenic | Mitochondrial disease, Mitochondrial disease |
| RS886037772 | Health Risk | Pathogenic | Mitochondrial disease, Mitochondrial disease |
| RS886037773 | Health Risk | Pathogenic | Mitochondrial disease, Mitochondrial disease |
| RS115079861 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 11, Mitochondrial disease, Inborn genetic diseases |
| RS144647126 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11 |
| RS1562800908 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 11, Abnormality of the nervous system, Melanoma |
| RS769890347 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11 |