FKTN Chromosome 9
Fukutin
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What This Gene Does
The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]
Associated Conditions (23)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A
4
Dilated cardiomyopathy 1X
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability)
type B4
FKTN-related disorder
Ventricular tachycardia
Cardiomyopathy
type A1
Hypertrophic cardiomyopathy
Myopathy caused by variation in FKTN
Clear cell carcinoma of kidney
Colon adenocarcinoma
Lymphoma
Familial cancer of breast
Muscular dystrophy-dystroglycanopathy
+3 more conditions
Key Variants
RS114655654
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Health Risk
RS115155934
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
Health Risk
RS115730708
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Health Risk
RS116107812
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Health Risk
RS116364105
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Health Risk
RS116549376
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
Health Risk
RS117283748
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Health Risk
RS119463994
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X
Health Risk
RS119464998
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Health Risk
RS1222153269
Conflicting classifications of pathogenicity
Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy
Health Risk
RS1293245717
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Health Risk
RS1338220455
Conflicting classifications of pathogenicity
Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy
Health Risk
All Variants (219)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114655654 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS115155934 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS115730708 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS116107812 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS116364105 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS116549376 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS117283748 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS119463994 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X |
| RS119464998 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS1222153269 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS1293245717 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS1338220455 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS1361772036 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, FKTN-related disorder, Walker-Warburg congenital muscular dystrophy |
| RS141298287 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS141729611 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS141886790 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS1419099088 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS141918432 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS142604625 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1429464723 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS1448279636 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS145387221 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Dilated cardiomyopathy 1X |
| RS146272618 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 |
| RS146951171 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Hypertrophic cardiomyopathy, Walker-Warburg congenital muscular dystrophy |
| RS146967918 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype |
| RS1472560195 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype |
| RS148937517 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS149033995 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS151250905 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS1554748292 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS1554766855 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS16924759 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS17316607 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS1829177357 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS1829190548 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS185745657 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS188804693 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS193922689 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS202047149 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS2132596368 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS2133450404 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS367662190 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X |
| RS367868644 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS368598407 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS368981218 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype |
| RS369117043 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS369316426 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS370564232 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS373418195 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
| RS374912618 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |