TMEM70 Chromosome 8
Transmembrane protein 70
Upload your DNA to see your personal genotypes for variants in TMEM70.
What This Gene Does
This gene likely encodes a mitochondrial membrane protein. The encoded protein may play a role in biogenesis of mitochondrial ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
8q21.11
Ensembl
ENSG00000175606
Associated Conditions (10)
Mitochondrial complex V (ATP synthase) deficiency
nuclear type 2
Inborn genetic diseases
Autosomal recessive disease
TMEM70-related disorder
Mitochondrial proton-transporting ATP synthase complex deficiency
Neurodevelopmental disorder
See cases
Papillary renal cell carcinoma type 1
Nonpapillary renal cell carcinoma
Key Variants
RS111248269
Conflicting classifications of pathogenicity
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Inborn genetic diseases
Health Risk
RS113669789
Conflicting classifications of pathogenicity
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Autosomal recessive disease
Health Risk
RS1215450178
Conflicting classifications of pathogenicity
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Inborn genetic diseases
Health Risk
RS139864454
Conflicting classifications of pathogenicity
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency
Health Risk
RS140061938
Conflicting classifications of pathogenicity
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency
Health Risk
RS143954787
Conflicting classifications of pathogenicity
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency
Health Risk
RS145329086
Conflicting classifications of pathogenicity
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, TMEM70-related disorder
Health Risk
RS149823637
Conflicting classifications of pathogenicity
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Inborn genetic diseases
Health Risk
RS199655842
Conflicting classifications of pathogenicity
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency
Health Risk
RS200820631
Conflicting classifications of pathogenicity
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency
Health Risk
RS373992649
Conflicting classifications of pathogenicity
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Inborn genetic diseases
Health Risk
RS746973761
Conflicting classifications of pathogenicity
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency
Health Risk
All Variants (42)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111248269 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Inborn genetic diseases |
| RS113669789 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Autosomal recessive disease |
| RS1215450178 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Inborn genetic diseases |
| RS139864454 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS140061938 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS143954787 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS145329086 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, TMEM70-related disorder |
| RS149823637 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Inborn genetic diseases |
| RS199655842 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS200820631 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS373992649 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Inborn genetic diseases |
| RS746973761 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS767141480 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS770816150 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS779003036 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Inborn genetic diseases |
| RS796052054 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS928358741 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS1374036185 | Health Risk | Likely pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS1815641175 | Health Risk | Likely pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS2536392822 | Health Risk | Likely pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS569129411 | Health Risk | Likely pathogenic | — |
| RS796052055 | Health Risk | Likely pathogenic | — |
| RS1376883697 | Health Risk | Pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS1554599411 | Health Risk | Pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS1563697094 | Health Risk | Pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS1586636643 | Health Risk | Pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS1815648647 | Health Risk | Pathogenic | — |
| RS2131236570 | Health Risk | Pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS2536389836 | Health Risk | Pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS2536392852 | Health Risk | Pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS2536395934 | Health Risk | Pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS387907070 | Health Risk | Pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Inborn genetic diseases |
| RS774638624 | Health Risk | Pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS796052056 | Health Risk | Pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial proton-transporting ATP synthase complex deficiency |
| RS980904190 | Health Risk | Pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS1411381518 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS1426201422 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS1444024910 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS183973249 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Neurodevelopmental disorder |
| RS2131236556 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS2536395943 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |
| RS777501387 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Mitochondrial complex V (ATP synthase) deficiency |