Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit

Chromosome
19
Cytoband
19q13.32
Variants (rsID)
21

ERCC2 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 “ERCC excision repair 2, TFIIH core complex helicase subunit”. The reference table lists 21 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

15 reference-table entries with clinical significance.

  • rs1052555Benignsingle nucleotide variantXeroderma pigmentosum, group D|Trichothiodystrophy 1, photosensitive|Cerebrooculofacioskeletal syndrome 2
  • rs13181Benignsingle nucleotide variantXeroderma pigmentosum, group D|Non-small cell lung carcinoma|Bone osteosarcoma|Trichothiodystrophy 1, photosensitive|Cerebrooculofacioskeletal syndrome 2
  • rs1799793Benignsingle nucleotide variantXeroderma pigmentosum, group D|Cerebrooculofacioskeletal syndrome 2|Trichothiodystrophy 1, photosensitive
  • rs238406Benignsingle nucleotide variantXeroderma pigmentosum, group D|Cerebrooculofacioskeletal syndrome 2|Trichothiodystrophy 1, photosensitive
  • rs144564120Conflicting interpretationssingle nucleotide variantMixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified|ERCC2-Related Disorders|Xeroderma pigmentosum, group D|Trichothiodystrophy 1, photosensitive
  • rs147972150Conflicting interpretationssingle nucleotide variantXeroderma pigmentosum, group D|Trichothiodystrophy 1, photosensitive|Cerebrooculofacioskeletal syndrome 2|Xeroderma pigmentosum
  • rs370454709Conflicting interpretationssingle nucleotide variantERCC2-Related Disorders|Xeroderma pigmentosum
  • rs121913018Pathogenicsingle nucleotide variantTrichothiodystrophy 1, photosensitive
  • rs121913019Pathogenicsingle nucleotide variantXeroderma pigmentosum, group D
  • rs121913020Pathogenicsingle nucleotide variantXeroderma pigmentosum, group D|Trichothiodystrophy 1, photosensitive
  • rs121913021Pathogenicsingle nucleotide variantTrichothiodystrophy 1, photosensitive
  • rs121913024Pathogenicsingle nucleotide variantXeroderma pigmentosum, group D|Cerebrooculofacioskeletal syndrome 2
  • rs121913026Pathogenicsingle nucleotide variantTrichothiodystrophy 1, photosensitive|Cerebrooculofacioskeletal syndrome 2|Xeroderma pigmentosum, group D|Trichothiodystrophy 1, photosensitive|Cerebrooculofacioskeletal syndrome 2|ERCC2-related conditions|Trichothiodystrophy|Hypotrichosis simplex
  • rs200665173Uncertain significancesingle nucleotide variantCerebrooculofacioskeletal syndrome 1|Trichothiodystrophy 1, photosensitive|Xeroderma pigmentosum, group D|Cerebrooculofacioskeletal syndrome 2|Trichothiodystrophy 1, photosensitive|Xeroderma pigmentosum, group D|Cerebrooculofacioskeletal syndrome 2|Xeroderma pigmentosum
  • rs201392911Uncertain significancesingle nucleotide variantInborn genetic diseases|Xeroderma pigmentosum, group D

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.