Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

TTR

transthyretin

Chromosome
18
Cytoband
18q12.1
Variants (rsID)
21

TTR is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 18 (region 18q12.1). Its official name is “transthyretin”. The reference table lists 21 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

18 reference-table entries with clinical significance.

  • rs28933981Benignsingle nucleotide variantAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF|Cardiovascular phenotype|Amyloidogenic transthyretin amyloidosis|Cardiomyopathy|Charcot-Marie-Tooth disease
  • rs121918074Conflicting interpretationssingle nucleotide variantAmyloidogenic transthyretin amyloidosis|Cardiovascular phenotype|Cardiomyopathy|Heart failure|Charcot-Marie-Tooth disease|Hypertrophic cardiomyopathy 1
  • rs121918083Conflicting interpretationssingle nucleotide variantAmyloidogenic transthyretin amyloidosis
  • rs121918095Conflicting interpretationssingle nucleotide variantAmyloidogenic transthyretin amyloidosis|Cardiovascular phenotype|Cardiomyopathy|Charcot-Marie-Tooth disease
  • rs138065384Conflicting interpretationssingle nucleotide variantAmyloidogenic transthyretin amyloidosis|Charcot-Marie-Tooth disease|Cardiomyopathy
  • rs143906738Conflicting interpretationssingle nucleotide variantAmyloidogenic transthyretin amyloidosis|Cardiomyopathy|Charcot-Marie-Tooth disease
  • rs2276382Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Amyloidogenic transthyretin amyloidosis|Cardiomyopathy|Charcot-Marie-Tooth disease
  • rs75517067Conflicting interpretationssingle nucleotide variantAmyloidogenic transthyretin amyloidosis|Charcot-Marie-Tooth disease
  • rs386134269Likely pathogenicsingle nucleotide variantAmyloidogenic transthyretin amyloidosis
  • rs121918070Pathogenicsingle nucleotide variantAmyloidogenic transthyretin amyloidosis|Cardiomyopathy|Charcot-Marie-Tooth disease
  • rs121918082Pathogenicsingle nucleotide variantAmyloidogenic transthyretin amyloidosis
  • rs121918091Pathogenicsingle nucleotide variantAmyloidogenic transthyretin amyloidosis|Hyperthyroxinemia, dystransthyretinemic|Amyloidogenic transthyretin amyloidosis|Carpal tunnel syndrome
  • rs121918093Pathogenicsingle nucleotide variantAmyloidogenic transthyretin amyloidosis
  • rs121918098Pathogenicsingle nucleotide variantAMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED|Amyloidogenic transthyretin amyloidosis
  • rs267607161Pathogenicsingle nucleotide variantAmyloidogenic transthyretin amyloidosis
  • rs28933979Pathogenicsingle nucleotide variantAmyloidogenic transthyretin amyloidosis|Hyperthyroxinemia, dystransthyretinemic|Amyloidogenic transthyretin amyloidosis|Carpal tunnel syndrome|Cardiomyopathy|Charcot-Marie-Tooth disease
  • rs76992529Pathogenicsingle nucleotide variantAmyloidogenic transthyretin amyloidosis|Amyloid Cardiomyopathy, Transthyretin-related|Cardiomyopathy|Cardiovascular phenotype|Hyperthyroxinemia, dystransthyretinemic|Amyloidogenic transthyretin amyloidosis|Carpal tunnel syndrome|Anemia|Pancytopenia|Bone marrow hypocellularity|ATTRV122I amyloidosis|Charcot-Marie-Tooth disease|Postural tremor|See cases
  • rs377052919Uncertain significancesingle nucleotide variantAmyloidogenic transthyretin amyloidosis

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.