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Gene entry

TTC21B

tetratricopeptide repeat domain 21B

Chromosome
2
Cytoband
2q24.3
Variants (rsID)
32

TTC21B is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q24.3). Its official name is “tetratricopeptide repeat domain 21B”. The reference table lists 32 variants (rsID) for this gene.

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Clinically classified variants

13 reference-table entries with clinical significance.

  • rs1432273Benignsingle nucleotide variantAsphyxiating thoracic dystrophy 4|Nephronophthisis 12|Jeune thoracic dystrophy|Nephronophthisis
  • rs145436538Benignsingle nucleotide variantJeune thoracic dystrophy|Nephronophthisis|Nephronophthisis 12|Asphyxiating thoracic dystrophy 4
  • rs16851307Benignsingle nucleotide variantNephronophthisis 12|Asphyxiating thoracic dystrophy 4|Jeune thoracic dystrophy|Nephronophthisis|Connective tissue disorder
  • rs74447004Benignsingle nucleotide variantNephronophthisis 12|Asphyxiating thoracic dystrophy 4|Jeune thoracic dystrophy|Nephronophthisis
  • rs77106136Benignsingle nucleotide variantAsphyxiating thoracic dystrophy 4|Nephronophthisis 12|Jeune thoracic dystrophy|Nephronophthisis
  • rs139441507Conflicting interpretationssingle nucleotide variantNephronophthisis 12|Asphyxiating thoracic dystrophy 4|Jeune thoracic dystrophy|Nephronophthisis|Connective tissue disorder
  • rs141664029Conflicting interpretationssingle nucleotide variantJeune thoracic dystrophy|Nephronophthisis
  • rs145926679Conflicting interpretationssingle nucleotide variantNephronophthisis 12|Asphyxiating thoracic dystrophy 4|Jeune thoracic dystrophy|Nephronophthisis
  • rs149325238Conflicting interpretationssingle nucleotide variantNephronophthisis 12|Asphyxiating thoracic dystrophy 4|Jeune thoracic dystrophy|Nephronophthisis
  • rs149925563Conflicting interpretationssingle nucleotide variantJoubert syndrome 1|Nephronophthisis|Jeune thoracic dystrophy|Nephronophthisis 12|Asphyxiating thoracic dystrophy 4
  • rs199821354Conflicting interpretationssingle nucleotide variantJeune thoracic dystrophy|Nephronophthisis|Connective tissue disorder
  • rs138656848Likely benignsingle nucleotide variantAsphyxiating thoracic dystrophy 4|Nephronophthisis 12
  • rs140511594Pathogenicsingle nucleotide variantNephronophthisis 12|Jeune thoracic dystrophy|Nephronophthisis|Asphyxiating thoracic dystrophy 4|Nephronophthisis 12|Finnish congenital nephrotic syndrome|Infantile nephronophthisis|Renal dysplasia and retinal aplasia|Retinal dystrophy|Nephrotic syndrome|See cases

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.