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Gene entry

JAG1

jagged canonical Notch ligand 1

Chromosome
20
Cytoband
20p12.2
Variants (rsID)
30

JAG1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20p12.2). Its official name is “jagged canonical Notch ligand 1”. The reference table lists 30 variants (rsID) for this gene.

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Clinically classified variants

14 reference-table entries with clinical significance.

  • rs200648035Benignsingle nucleotide variantIsolated Nonsyndromic Congenital Heart Disease|Alagille syndrome due to a JAG1 point mutation
  • rs201234393Benignsingle nucleotide variantAlagille syndrome due to a JAG1 point mutation
  • rs201785359Benignsingle nucleotide variantAlagille syndrome due to a JAG1 point mutation|Isolated Nonsyndromic Congenital Heart Disease
  • rs2273061Benignsingle nucleotide variantAlagille syndrome due to a JAG1 point mutation
  • rs35761929Benignsingle nucleotide variantCardiovascular phenotype|Isolated Nonsyndromic Congenital Heart Disease|Alagille syndrome due to a JAG1 point mutation
  • rs7828Benignsingle nucleotide variantIsolated Nonsyndromic Congenital Heart Disease
  • rs147793030Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Alagille syndrome due to a JAG1 point mutation|Isolated Nonsyndromic Congenital Heart Disease
  • rs181970528Conflicting interpretationssingle nucleotide variantAlagille syndrome due to a JAG1 point mutation
  • rs199505265Conflicting interpretationssingle nucleotide variantIsolated Nonsyndromic Congenital Heart Disease|Alagille syndrome due to a JAG1 point mutation
  • rs202063628Conflicting interpretationssingle nucleotide variantIsolated Nonsyndromic Congenital Heart Disease|Alagille syndrome due to a JAG1 point mutation
  • rs372121353Conflicting interpretationssingle nucleotide variantIsolated Nonsyndromic Congenital Heart Disease|Alagille syndrome due to a JAG1 point mutation
  • rs121918351Pathogenicsingle nucleotide variantAlagille syndrome due to a JAG1 point mutation|Tetralogy of Fallot|Deafness, congenital heart defects, and posterior embryotoxon|Alagille syndrome due to a JAG1 point mutation
  • rs876660980Pathogenicsingle nucleotide variantAlagille syndrome due to a JAG1 point mutation
  • rs886043603Pathogenicsingle nucleotide variantAlagille syndrome due to a JAG1 point mutation

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.