Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

ENG

endoglin

Chromosome
9
Cytoband
9q34.11
Variants (rsID)
30

ENG is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q34.11). Its official name is “endoglin”. The reference table lists 30 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

20 reference-table entries with clinical significance.

  • rs112262663Benignsingle nucleotide variantTelangiectasia, hereditary hemorrhagic, type 1|Hereditary hemorrhagic telangiectasia
  • rs116330805Benignsingle nucleotide variantHaemorrhagic telangiectasia 1|Telangiectasia, hereditary hemorrhagic, type 1|Hereditary hemorrhagic telangiectasia
  • rs201359896Benignsingle nucleotide variantTelangiectasia, hereditary hemorrhagic, type 1|Hereditary hemorrhagic telangiectasia
  • rs3739817Benignsingle nucleotide variantTelangiectasia, hereditary hemorrhagic, type 1|Hereditary hemorrhagic telangiectasia
  • rs41302657Benignsingle nucleotide variantTelangiectasia, hereditary hemorrhagic, type 1|Hereditary hemorrhagic telangiectasia
  • rs41322046Benignsingle nucleotide variantTelangiectasia, hereditary hemorrhagic, type 1|Hereditary hemorrhagic telangiectasia
  • rs139398993Conflicting interpretationssingle nucleotide variantHaemorrhagic telangiectasia 1|Telangiectasia, hereditary hemorrhagic, type 1|Hereditary hemorrhagic telangiectasia|Galloway-Mowat syndrome 1
  • rs142896669Conflicting interpretationssingle nucleotide variantHereditary hemorrhagic telangiectasia|Pulmonary hypertension, primary, 1|Pulmonary arterial hypertension associated with congenital heart disease|Telangiectasia, hereditary hemorrhagic, type 1
  • rs730880096Likely pathogenicsingle nucleotide variantTelangiectasia, hereditary hemorrhagic, type 1
  • rs1060501417Pathogenicsingle nucleotide variantHereditary hemorrhagic telangiectasia
  • rs121918400Pathogenicsingle nucleotide variantTelangiectasia, hereditary hemorrhagic, type 1
  • rs121918401Pathogenicsingle nucleotide variantTelangiectasia, hereditary hemorrhagic, type 1
  • rs121918402Pathogenicsingle nucleotide variantTelangiectasia, hereditary hemorrhagic, type 1|Hereditary hemorrhagic telangiectasia
  • rs267606783Pathogenicsingle nucleotide variantTelangiectasia, hereditary hemorrhagic, type 1
  • rs373842615Pathogenicsingle nucleotide variantHaemorrhagic telangiectasia 1|Telangiectasia, hereditary hemorrhagic, type 1|Hereditary hemorrhagic telangiectasia
  • rs863223540PathogenicDeletionTelangiectasia, hereditary hemorrhagic, type 1|Hereditary hemorrhagic telangiectasia
  • rs864622666PathogenicMicrosatelliteTelangiectasia, hereditary hemorrhagic, type 1|Hereditary hemorrhagic telangiectasia
  • rs878853657Pathogenicsingle nucleotide variantHereditary hemorrhagic telangiectasia|See cases
  • rs886039505Pathogenicsingle nucleotide variantTelangiectasia, hereditary hemorrhagic, type 1|Hereditary hemorrhagic telangiectasia
  • rs187643086Uncertain significancesingle nucleotide variant

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.