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Gene entry

ELP1

elongator acetyltransferase complex subunit 1

Chromosome
9
Cytoband
9q31.3
Variants (rsID)
37

ELP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q31.3). Its official name is “elongator acetyltransferase complex subunit 1”. The reference table lists 37 variants (rsID) for this gene.

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Clinically classified variants

19 reference-table entries with clinical significance.

  • rs10979599Benignsingle nucleotide variantFamilial dysautonomia
  • rs112114410Benignsingle nucleotide variantFamilial dysautonomia
  • rs1140064Benignsingle nucleotide variantFamilial dysautonomia
  • rs141670242Benignsingle nucleotide variantFamilial dysautonomia
  • rs17853166Benignsingle nucleotide variantFamilial dysautonomia
  • rs2230786Benignsingle nucleotide variantFamilial dysautonomia
  • rs2230795Benignsingle nucleotide variantFamilial dysautonomia
  • rs35054425Benignsingle nucleotide variantFamilial dysautonomia
  • rs111936933Conflicting interpretationssingle nucleotide variantFamilial dysautonomia|Hereditary sensory and autonomic neuropathy
  • rs146956297Conflicting interpretationssingle nucleotide variantFamilial dysautonomia
  • rs148378319Conflicting interpretationssingle nucleotide variantFamilial dysautonomia
  • rs374787755Conflicting interpretationssingle nucleotide variantFamilial dysautonomia
  • rs61749202Conflicting interpretationssingle nucleotide variantFamilial dysautonomia
  • rs28939712Likely pathogenicsingle nucleotide variantFamilial dysautonomia|Charcot-Marie-Tooth disease
  • rs111033171Pathogenicsingle nucleotide variantFamilial dysautonomia|Charcot-Marie-Tooth disease
  • rs137853022Pathogenicsingle nucleotide variantFamilial dysautonomia|Charcot-Marie-Tooth disease
  • rs139091484Uncertain significancesingle nucleotide variantFamilial dysautonomia
  • rs182287137Uncertain significancesingle nucleotide variantFamilial dysautonomia
  • rs201440191Uncertain significancesingle nucleotide variantFamilial dysautonomia

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.