CTF1 Chromosome 16
Cardiotrophin 1
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What This Gene Does
The protein encoded by this gene is a secreted cytokine that induces cardiac myocyte hypertrophy in vitro. It has been shown to bind and activate the ILST/gp130 receoptor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Gene Info
Gene Group
Interleukin 6 type cytokine family
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000150281
Associated Conditions (5)
Cardiomyopathy
Primary familial hypertrophic cardiomyopathy
Dilated Cardiomyopathy
Dominant
Hypertrophic cardiomyopathy
Key Variants
RS1217608616
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiomyopathy
Health Risk
RS1373635087
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiomyopathy
Health Risk
RS1467275471
Conflicting classifications of pathogenicity
Health Risk
RS149342494
Conflicting classifications of pathogenicity
Health Risk
RS201703547
Conflicting classifications of pathogenicity
Health Risk
RS2234933
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
Health Risk
RS397516645
Conflicting classifications of pathogenicity
Health Risk
RS397516646
Conflicting classifications of pathogenicity
Health Risk
RS727502948
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiomyopathy
Health Risk
RS727502949
Conflicting classifications of pathogenicity
Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1217608616 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Cardiomyopathy |
| RS1373635087 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Cardiomyopathy |
| RS1467275471 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149342494 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201703547 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2234933 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS397516645 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS397516646 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS727502948 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Cardiomyopathy |
| RS727502949 | Health Risk | Conflicting classifications of pathogenicity | Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy |