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FLNC

From SNPedia
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ClinVarFLNC
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# SNPs11
 Max MagnitudeChromosome positionSummary
rs10647952290128,844,254
rs1219095186.5128,858,475
rs22915690128,848,680
rs3879065866.5128,837,450
rs3879065870128,835,550
rs7706066756.5128,841,304
rs7811351530128,845,989
rs8792556396.5128,848,926
rs8792556400128,853,831
rs8860378290128,830,955
rs8860378300128,844,045

Located on chromosome 7, the FLNC gene encoudes Filamin-C (FLN-C), also known as actin-binding-like protein (ABPL) or filamin-2 (FLN2), a protein mainly expressed in cardiac and skeletal muscles.Wikipedia

Conditions arising from certain mutations in the FLNC gene include:

  • Myofibrillar Myopathy 5
  • Distal Myopathy 4
  • Familial Cardiomyopathy, Hypertrophic or Restrictive