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Gene entry

ERCC6

ERCC excision repair 6, chromatin remodeling factor

Chromosome
10
Cytoband
10q11.23
Variants (rsID)
38

ERCC6 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q11.23). Its official name is “ERCC excision repair 6, chromatin remodeling factor”. The reference table lists 38 variants (rsID) for this gene.

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Clinically classified variants

23 reference-table entries with clinical significance.

  • rs190863815Benignsingle nucleotide variantCockayne syndrome type 2|Cerebrooculofacioskeletal syndrome 1|Age related macular degeneration 5
  • rs2228526Benignsingle nucleotide variantCockayne syndrome|COFS syndrome|Macular degeneration
  • rs2228528Benignsingle nucleotide variantMacular degeneration|Cockayne syndrome|COFS syndrome|Cerebrooculofacioskeletal syndrome 1|UV-sensitive syndrome 1|Cockayne syndrome type 2|DE SANCTIS-CACCHIONE SYNDROME
  • rs4253047Benignsingle nucleotide variantCockayne syndrome|COFS syndrome|Macular degeneration
  • rs4253227Benignsingle nucleotide variantCerebrooculofacioskeletal syndrome 1|Age related macular degeneration 5|Cockayne syndrome type 2
  • rs4253231Benignsingle nucleotide variantCOFS syndrome|Cockayne syndrome|Macular degeneration
  • rs114234514Conflicting interpretationssingle nucleotide variant
  • rs139007661Conflicting interpretationssingle nucleotide variantCockayne syndrome|Macular degeneration|COFS syndrome|7 conditions|DE SANCTIS-CACCHIONE SYNDROME
  • rs142580756Conflicting interpretationssingle nucleotide variantCerebrooculofacioskeletal syndrome 1|Cockayne syndrome type 2|Age related macular degeneration 5
  • rs143260457Conflicting interpretationssingle nucleotide variantCockayne syndrome type 2|Cerebrooculofacioskeletal syndrome 1|Age related macular degeneration 5
  • rs145720191Conflicting interpretationssingle nucleotide variantCockayne syndrome|Macular degeneration|COFS syndrome
  • rs148095899Conflicting interpretationssingle nucleotide variantMacular degeneration|COFS syndrome|Cockayne syndrome
  • rs201813523Conflicting interpretationssingle nucleotide variantCerebrooculofacioskeletal syndrome 1|Age related macular degeneration 5|Cockayne syndrome type 2
  • rs368728467Conflicting interpretationssingle nucleotide variantCockayne syndrome type 2|DE SANCTIS-CACCHIONE SYNDROME|Cerebrooculofacioskeletal syndrome 1|Cockayne syndrome type 2|Cockayne syndrome
  • rs41562713Conflicting interpretationssingle nucleotide variantCerebrooculofacioskeletal syndrome 1|Age related macular degeneration 5|Cockayne syndrome type 2
  • rs4253208Conflicting interpretationssingle nucleotide variantCockayne syndrome type 2|Age related macular degeneration 5|Cerebrooculofacioskeletal syndrome 1|DE SANCTIS-CACCHIONE SYNDROME
  • rs61760166Conflicting interpretationssingle nucleotide variantCerebrooculofacioskeletal syndrome 1|Cockayne syndrome type 2|Age related macular degeneration 5
  • rs121917904Pathogenicsingle nucleotide variantCerebrooculofacioskeletal syndrome 1|ERCC6-Related Disorders|DE SANCTIS-CACCHIONE SYNDROME
  • rs151242354Pathogenicsingle nucleotide variantCockayne syndrome type 2|ERCC6-Related Disorders|DE SANCTIS-CACCHIONE SYNDROME|Cockayne syndrome
  • rs371739894Pathogenicsingle nucleotide variantCockayne syndrome type 2|DE SANCTIS-CACCHIONE SYNDROME|Cockayne syndrome
  • rs373227647Pathogenicsingle nucleotide variantCockayne syndrome type 2|DE SANCTIS-CACCHIONE SYNDROME|7 conditions
  • rs774791374PathogenicDuplicationCockayne syndrome type 2|DE SANCTIS-CACCHIONE SYNDROME|Cerebrooculofacioskeletal syndrome 1|Cockayne syndrome type 2
  • rs116373975Uncertain significancesingle nucleotide variantCockayne syndrome type 2|Age related macular degeneration 5|Cerebrooculofacioskeletal syndrome 1|7 conditions

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.