CASZ1 Chromosome 1
Castor zinc finger 1
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What This Gene Does
The protein encoded by this gene is a zinc finger transcription factor. The encoded protein may function as a tumor suppressor, and single nucleotide polymorphisms in this gene are associated with blood pressure variation. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
1p36.22
Ensembl
ENSG00000130940
Associated Conditions (1)
Primary dilated cardiomyopathy
Key Variants
RS138289719
Conflicting classifications of pathogenicity
Health Risk
RS143439959
Conflicting classifications of pathogenicity
Health Risk
RS147188438
Conflicting classifications of pathogenicity
Health Risk
RS201132338
Conflicting classifications of pathogenicity
Health Risk
RS201245525
Conflicting classifications of pathogenicity
Health Risk
RS746220263
Conflicting classifications of pathogenicity
Health Risk
RS752910553
Conflicting classifications of pathogenicity
Health Risk
RS759531544
Conflicting classifications of pathogenicity
Health Risk
RS759961314
Conflicting classifications of pathogenicity
Health Risk
RS778912711
Conflicting classifications of pathogenicity
Health Risk
RS779789610
Likely pathogenic
Health Risk
RS1344522422
Pathogenic
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138289719 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143439959 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147188438 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201132338 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201245525 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746220263 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752910553 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759531544 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759961314 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778912711 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779789610 | Health Risk | Likely pathogenic | — |
| RS1344522422 | Health Risk | Pathogenic | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS2100221588 | Health Risk | Pathogenic | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |