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Gene entry

FKTN

fukutin

Chromosome
9
Cytoband
9q31.2
Variants (rsID)
29

FKTN is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q31.2). Its official name is “fukutin”. The reference table lists 29 variants (rsID) for this gene.

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Clinically classified variants

14 reference-table entries with clinical significance.

  • rs17309806Benignsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Dilated cardiomyopathy 1X|Cardiovascular phenotype|Walker-Warburg congenital muscular dystrophy
  • rs34006675Benignsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Walker-Warburg congenital muscular dystrophy|Cardiovascular phenotype
  • rs34787999Benignsingle nucleotide variantDilated cardiomyopathy 1X|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Autosomal recessive limb-girdle muscular dystrophy type 2M|Cardiovascular phenotype|Walker-Warburg congenital muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2M|Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
  • rs115155934Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1X|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
  • rs119464998Conflicting interpretationssingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Walker-Warburg congenital muscular dystrophy
  • rs141918432Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1X|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Cardiovascular phenotype|Ventricular tachycardia|Cardiomyopathy|Walker-Warburg congenital muscular dystrophy
  • rs146951171Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Hypertrophic cardiomyopathy|Walker-Warburg congenital muscular dystrophy|Dilated cardiomyopathy 1X|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
  • rs151250905Conflicting interpretationssingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Dilated cardiomyopathy 1X
  • rs41277797Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1X|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Walker-Warburg congenital muscular dystrophy|Cardiovascular phenotype
  • rs41313301Conflicting interpretationssingle nucleotide variantCardiomyopathy|Walker-Warburg congenital muscular dystrophy|Cardiovascular phenotype|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Dilated cardiomyopathy 1X
  • rs119463994Likely pathogenicsingle nucleotide variantDilated cardiomyopathy 1X
  • rs119463992Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2M|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
  • rs267606814Pathogenicsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Walker-Warburg congenital muscular dystrophy
  • rs746763506Pathogenicsingle nucleotide variantWalker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Autosomal recessive limb-girdle muscular dystrophy type 2M|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Dilated cardiomyopathy 1X

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.