TACSTD2 Chromosome 1
Tumor associated calcium signal transducer 2
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What This Gene Does
This intronless gene encodes a carcinoma-associated antigen. This antigen is a cell surface receptor that transduces calcium signals. Mutations of this gene have been associated with gelatinous drop-like corneal dystrophy.[provided by RefSeq, Dec 2009]
Associated Conditions (1)
Gelatinous droplike corneal dystrophy
Key Variants
RS115606722
Conflicting classifications of pathogenicity
Health Risk
RS142263208
Conflicting classifications of pathogenicity
Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
Health Risk
RS145491347
Conflicting classifications of pathogenicity
Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
Health Risk
RS772658288
Conflicting classifications of pathogenicity
Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
Health Risk
RS2523948090
Likely pathogenic
Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
Health Risk
RS1569579635
Pathogenic
Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
Health Risk
RS2523947665
Pathogenic
Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
Health Risk
RS780819073
Pathogenic
Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
Health Risk
RS80358223
Pathogenic
Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
Health Risk
RS80358224
Pathogenic
Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
Health Risk
RS80358225
Pathogenic
Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
Health Risk
RS80358226
Pathogenic
Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115606722 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142263208 | Health Risk | Conflicting classifications of pathogenicity | Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy |
| RS145491347 | Health Risk | Conflicting classifications of pathogenicity | Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy |
| RS772658288 | Health Risk | Conflicting classifications of pathogenicity | Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy |
| RS2523948090 | Health Risk | Likely pathogenic | Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy |
| RS1569579635 | Health Risk | Pathogenic | Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy |
| RS2523947665 | Health Risk | Pathogenic | Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy |
| RS780819073 | Health Risk | Pathogenic | Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy |
| RS80358223 | Health Risk | Pathogenic | Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy |
| RS80358224 | Health Risk | Pathogenic | Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy |
| RS80358225 | Health Risk | Pathogenic | Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy |
| RS80358226 | Health Risk | Pathogenic | Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy |
| RS80358227 | Health Risk | Pathogenic | Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy |
| RS80358228 | Health Risk | Pathogenic | Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy |