TTC19 Chromosome 17
Tetratricopeptide repeat domain 19
Upload your DNA to see your personal genotypes for variants in TTC19.
What This Gene Does
This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012]
Gene Info
Gene Group
"Mitochondrial respiratory chain complex assembly factors|Tetratricopeptide repeat domain containing"
Locus Type
gene with protein product
Location
17p12
Ensembl
ENSG00000011295
Associated Conditions (6)
Mitochondrial complex III deficiency nuclear type 2
Inborn genetic diseases
TTC19-related disorder
Lung cancer
Mitochondrial disease
Autism
Key Variants
RS116412774
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
Health Risk
RS116722822
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
Health Risk
RS117087989
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
Health Risk
RS140719848
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 2, Inborn genetic diseases, Mitochondrial complex III deficiency nuclear type 2
Health Risk
RS143293913
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 2, TTC19-related disorder, Mitochondrial complex III deficiency nuclear type 2
Health Risk
RS1462593526
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 2, Inborn genetic diseases, Mitochondrial complex III deficiency nuclear type 2
Health Risk
RS147111211
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 2, Inborn genetic diseases, TTC19-related disorder
Health Risk
RS150843177
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
Health Risk
RS192522753
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
Health Risk
RS2302414
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 2, Lung cancer, Mitochondrial complex III deficiency nuclear type 2
Health Risk
RS372717953
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 2, Inborn genetic diseases, Mitochondrial complex III deficiency nuclear type 2
Health Risk
RS374666326
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 2, Inborn genetic diseases, Mitochondrial complex III deficiency nuclear type 2
Health Risk
All Variants (47)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116412774 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS116722822 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS117087989 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS140719848 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 2, Inborn genetic diseases, Mitochondrial complex III deficiency nuclear type 2 |
| RS143293913 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 2, TTC19-related disorder, Mitochondrial complex III deficiency nuclear type 2 |
| RS1462593526 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 2, Inborn genetic diseases, Mitochondrial complex III deficiency nuclear type 2 |
| RS147111211 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 2, Inborn genetic diseases, TTC19-related disorder |
| RS150843177 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS192522753 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS2302414 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 2, Lung cancer, Mitochondrial complex III deficiency nuclear type 2 |
| RS372717953 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 2, Inborn genetic diseases, Mitochondrial complex III deficiency nuclear type 2 |
| RS374666326 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 2, Inborn genetic diseases, Mitochondrial complex III deficiency nuclear type 2 |
| RS537063695 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 2, TTC19-related disorder, Mitochondrial complex III deficiency nuclear type 2 |
| RS539229732 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS544027755 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 2, Inborn genetic diseases, Mitochondrial complex III deficiency nuclear type 2 |
| RS568088809 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS749196122 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Mitochondrial complex III deficiency nuclear type 2, Inborn genetic diseases |
| RS756830714 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS769438082 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS770551362 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774176392 | Health Risk | Conflicting classifications of pathogenicity | TTC19-related disorder, Inborn genetic diseases, TTC19-related disorder |
| RS77955179 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS78193493 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 2, TTC19-related disorder, Mitochondrial complex III deficiency nuclear type 2 |
| RS78882347 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS1970827483 | Health Risk | Likely pathogenic | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS2549928014 | Health Risk | Likely pathogenic | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS2549928140 | Health Risk | Likely pathogenic | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS2549928946 | Health Risk | Likely pathogenic | — |
| RS752231020 | Health Risk | Likely pathogenic | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS779925213 | Health Risk | Likely pathogenic | — |
| RS781491387 | Health Risk | Likely pathogenic | — |
| RS992290703 | Health Risk | Likely pathogenic | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS1230388887 | Health Risk | Pathogenic | — |
| RS1555530551 | Health Risk | Pathogenic | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS1970827663 | Health Risk | Pathogenic | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS2549951241 | Health Risk | Pathogenic | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS387907094 | Health Risk | Pathogenic | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS747166010 | Health Risk | Pathogenic | Mitochondrial complex III deficiency nuclear type 2, Inborn genetic diseases, Mitochondrial complex III deficiency nuclear type 2 |
| RS758193274 | Health Risk | Pathogenic | Mitochondrial disease, Mitochondrial disease |
| RS769078093 | Health Risk | Pathogenic | — |
| RS773904382 | Health Risk | Pathogenic | — |
| RS779592523 | Health Risk | Pathogenic | — |
| RS794726691 | Health Risk | Pathogenic | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS794726692 | Health Risk | Pathogenic | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS961191529 | Health Risk | Pathogenic | — |
| RS1187416161 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2 |
| RS764720544 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex III deficiency nuclear type 2, Autism, Mitochondrial complex III deficiency nuclear type 2 |