TDRD7 Chromosome 9
Tudor domain containing 7
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What This Gene Does
The protein encoded by this gene belongs to the Tudor family of proteins. This protein contains conserved Tudor domains and LOTUS domains. It is a component of RNA granules, which function in RNA processing. Mutations in this gene have been associated with cataract formation in mouse and human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Gene Info
Gene Group
Tudor domain containing
Locus Type
gene with protein product
Location
9q22.33
Ensembl
ENSG00000196116
Associated Conditions (3)
Cataract 36
Inborn genetic diseases
TDRD7-related disorder
Key Variants
RS111320552
Conflicting classifications of pathogenicity
Cataract 36, Cataract 36
Health Risk
RS137878640
Conflicting classifications of pathogenicity
Cataract 36, Inborn genetic diseases, TDRD7-related disorder
Health Risk
RS139696600
Conflicting classifications of pathogenicity
TDRD7-related disorder, Inborn genetic diseases, Cataract 36
Health Risk
RS139706467
Conflicting classifications of pathogenicity
Cataract 36, Cataract 36
Health Risk
RS140697341
Conflicting classifications of pathogenicity
Cataract 36, TDRD7-related disorder, Cataract 36
Health Risk
RS143579801
Conflicting classifications of pathogenicity
Cataract 36, Cataract 36
Health Risk
RS144510531
Conflicting classifications of pathogenicity
Cataract 36, TDRD7-related disorder, Cataract 36
Health Risk
RS144693621
Conflicting classifications of pathogenicity
Cataract 36, Cataract 36
Health Risk
RS149536158
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cataract 36, Inborn genetic diseases
Health Risk
RS201216195
Conflicting classifications of pathogenicity
Cataract 36, Cataract 36
Health Risk
RS201253435
Conflicting classifications of pathogenicity
Cataract 36, Cataract 36
Health Risk
RS371279564
Conflicting classifications of pathogenicity
Cataract 36, Cataract 36
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111320552 | Health Risk | Conflicting classifications of pathogenicity | Cataract 36, Cataract 36 |
| RS137878640 | Health Risk | Conflicting classifications of pathogenicity | Cataract 36, Inborn genetic diseases, TDRD7-related disorder |
| RS139696600 | Health Risk | Conflicting classifications of pathogenicity | TDRD7-related disorder, Inborn genetic diseases, Cataract 36 |
| RS139706467 | Health Risk | Conflicting classifications of pathogenicity | Cataract 36, Cataract 36 |
| RS140697341 | Health Risk | Conflicting classifications of pathogenicity | Cataract 36, TDRD7-related disorder, Cataract 36 |
| RS143579801 | Health Risk | Conflicting classifications of pathogenicity | Cataract 36, Cataract 36 |
| RS144510531 | Health Risk | Conflicting classifications of pathogenicity | Cataract 36, TDRD7-related disorder, Cataract 36 |
| RS144693621 | Health Risk | Conflicting classifications of pathogenicity | Cataract 36, Cataract 36 |
| RS149536158 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Cataract 36, Inborn genetic diseases |
| RS201216195 | Health Risk | Conflicting classifications of pathogenicity | Cataract 36, Cataract 36 |
| RS201253435 | Health Risk | Conflicting classifications of pathogenicity | Cataract 36, Cataract 36 |
| RS371279564 | Health Risk | Conflicting classifications of pathogenicity | Cataract 36, Cataract 36 |
| RS764337688 | Health Risk | Conflicting classifications of pathogenicity | Cataract 36, Cataract 36 |
| RS1477743112 | Health Risk | Likely pathogenic | Cataract 36, Cataract 36 |
| RS748412471 | Health Risk | Likely pathogenic | Cataract 36, Cataract 36 |
| RS1554743428 | Health Risk | Pathogenic | Cataract 36, Cataract 36 |
| RS1554744860 | Health Risk | Pathogenic | Cataract 36, Cataract 36 |
| RS2131165749 | Health Risk | Pathogenic | Cataract 36, Cataract 36 |
| RS2490721602 | Health Risk | Pathogenic | Cataract 36, Cataract 36 |
| RS750207077 | Health Risk | Pathogenic | Cataract 36, Cataract 36 |
| RS765628635 | Health Risk | Pathogenic | Cataract 36, Cataract 36 |