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Gene entry

FKRP

fukutin related protein

Chromosome
19
Cytoband
19q13.32
Variants (rsID)
16

FKRP is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19q13.32). Its official name is “fukutin related protein”. The reference table lists 16 variants (rsID) for this gene.

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Clinically classified variants

16 reference-table entries with clinical significance.

  • rs200990647Benignsingle nucleotide variantWalker-Warburg congenital muscular dystrophy|Cardiomyopathy|Hypertrophic cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2I
  • rs104894683Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2I|Walker-Warburg congenital muscular dystrophy
  • rs140084192Conflicting interpretationssingle nucleotide variantWalker-Warburg congenital muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2I
  • rs140679502Conflicting interpretationssingle nucleotide variantWalker-Warburg congenital muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2I
  • rs143793528Conflicting interpretationssingle nucleotide variantWalker-Warburg congenital muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2I|Muscular dystrophy-dystroglycanopathy type B5|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • rs201454433Conflicting interpretationssingle nucleotide variantWalker-Warburg congenital muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2I
  • rs587780334Conflicting interpretationssingle nucleotide variantWalker-Warburg congenital muscular dystrophy
  • rs768007208Conflicting interpretationssingle nucleotide variantWalker-Warburg congenital muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2I
  • rs104894681Pathogenicsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5|Muscular dystrophy-dystroglycanopathy type B5|Autosomal recessive limb-girdle muscular dystrophy type 2I|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5
  • rs104894682Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2I|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy|Autosomal recessive limb-girdle muscular dystrophy
  • rs121908110Pathogenicsingle nucleotide variantMuscular dystrophy|Walker-Warburg congenital muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2I|Muscular dystrophy-dystroglycanopathy type B5|Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5
  • rs28937900Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2I|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5|Muscular dystrophy-dystroglycanopathy type B5|Autosomal recessive limb-girdle muscular dystrophy type 2I|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|Limb-girdle muscular dystrophy|8 conditions|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5|Muscular dystrophy-dystroglycanopathy type B5|Autosomal recessive limb-girdle muscular dystrophy type 2I|Muscular dystrophy-dystroglycanopathy type B5|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5|Myopathy|Autosomal recessive limb-girdle muscular dystrophy
  • rs28937903Pathogenicsingle nucleotide variantMuscular dystrophy-dystroglycanopathy type B5|Autosomal recessive limb-girdle muscular dystrophy type 2I|Walker-Warburg congenital muscular dystrophy
  • rs587777223Pathogenicsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • rs886044183Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2I|Walker-Warburg congenital muscular dystrophy
  • rs144236975Uncertain significancesingle nucleotide variantWalker-Warburg congenital muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2I

Public references

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