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Gene entry

EYA1

EYA transcriptional coactivator and phosphatase 1

Chromosome
8
Cytoband
8q13.3
Variants (rsID)
94

EYA1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8q13.3). Its official name is “EYA transcriptional coactivator and phosphatase 1”. The reference table lists 94 variants (rsID) for this gene.

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Clinically classified variants

11 reference-table entries with clinical significance.

  • rs77825059Benignsingle nucleotide variantOtofaciocervical syndrome 1|Branchiootic syndrome 1|Melnick-Fraser syndrome
  • rs121909199Conflicting interpretationssingle nucleotide variantBranchiootorenal syndrome with cataract|Otofaciocervical syndrome 1|Branchiootic syndrome 1|Branchiootorenal syndrome 1
  • rs139717960Conflicting interpretationssingle nucleotide variantBranchiootic syndrome 1|Otofaciocervical syndrome 1|Melnick-Fraser syndrome|Developmental cataract
  • rs148647933Conflicting interpretationssingle nucleotide variantBranchiootic syndrome 1|Otofaciocervical syndrome 1|Branchiootorenal syndrome 1
  • rs201504674Conflicting interpretationssingle nucleotide variantOtofaciocervical syndrome 1|Branchiootic syndrome 1|Hearing impairment|Melnick-Fraser syndrome
  • rs201509408Conflicting interpretationssingle nucleotide variantBranchiootorenal syndrome 1
  • rs201537030Conflicting interpretationssingle nucleotide variantBranchiootic syndrome 1|Otofaciocervical syndrome 1|Melnick-Fraser syndrome
  • rs74720958Conflicting interpretationssingle nucleotide variantOtofaciocervical syndrome 1|Melnick-Fraser syndrome
  • rs121909195Pathogenicsingle nucleotide variantBranchiootorenal syndrome 1|Rare genetic deafness|Melnick-Fraser syndrome
  • rs121909196Pathogenicsingle nucleotide variantBranchiootorenal syndrome 1|Rare genetic deafness|Branchiooculofacial syndrome|Melnick-Fraser syndrome|Branchiootic syndrome 1
  • rs606231357Pathogenicsingle nucleotide variantBranchiootorenal syndrome 1|Melnick-Fraser syndrome

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.