TTR Chromosome 18

Transthyretin
122 variants 122 Health Risk

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What This Gene Does
This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
Gla domain containing
Locus Type
gene with protein product
Location
18q12.1
Ensembl
ENSG00000118271
Associated Conditions (19)
Cardiomyopathy
Amyloidosis
hereditary systemic 1
Cardiovascular phenotype
TTR-related disorder
Charcot-Marie-Tooth disease
Carpal tunnel syndrome 1
Hyperthyroxinemia
dystransthyretinemic
Hyperthyroidism
AMYLOIDOSIS
HEREDITARY SYSTEMIC 1
MODIFIER OF
Hypertrophic cardiomyopathy
Tip-toe gait
Carpal tunnel syndrome
Heart failure
Hereditary amyloidosis
ATTRV122I amyloidosis
Key Variants
RS112263266
Conflicting classifications of pathogenicity
Cardiomyopathy, Amyloidosis, hereditary systemic 1
Health Risk
RS11541793
Conflicting classifications of pathogenicity
Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
Health Risk
RS11541797
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiomyopathy, Amyloidosis
Health Risk
RS121918095
Conflicting classifications of pathogenicity
Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
Health Risk
RS138065384
Conflicting classifications of pathogenicity
Amyloidosis, hereditary systemic 1, Charcot-Marie-Tooth disease
Health Risk
RS138657343
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Amyloidosis, hereditary systemic 1
Health Risk
RS143906738
Conflicting classifications of pathogenicity
Amyloidosis, hereditary systemic 1, Charcot-Marie-Tooth disease
Health Risk
RS145551875
Conflicting classifications of pathogenicity
Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
Health Risk
RS1555631417
Conflicting classifications of pathogenicity
Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
Health Risk
RS1567946170
Conflicting classifications of pathogenicity
Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
Health Risk
RS2073510448
Conflicting classifications of pathogenicity
Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
Health Risk
RS2073528142
Conflicting classifications of pathogenicity
Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
Health Risk
All Variants (122)
RSID Category Clinical Significance Conditions
RS2510933010 Health Risk Likely pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
RS730881167 Health Risk Likely pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
RS778412314 Health Risk Likely pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
RS11541790 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
RS11541796 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
RS121918068 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
RS121918069 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
RS121918071 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Charcot-Marie-Tooth disease
RS121918072 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
RS121918075 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
RS121918076 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
RS121918077 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
RS121918079 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
RS121918080 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
RS121918081 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
RS121918088 Health Risk Pathogenic Carpal tunnel syndrome 1, Carpal tunnel syndrome 1
RS121918091 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Carpal tunnel syndrome
RS121918093 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
RS121918094 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
RS121918096 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
RS121918097 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
RS121918098 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
RS1340627860 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
RS1555631387 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
RS1555631390 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
RS1555631393 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
RS1567945632 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
RS1567945684 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
RS1567945702 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
RS1598844184 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
RS1598844213 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
RS1598845111 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
RS2073494094 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
RS2073511411 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
RS2144406525 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
RS2144409444 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
RS267607160 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
RS28933979 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Cardiomyopathy
RS387906523 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
RS779619795 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
RS79977247 Health Risk Pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
RS104894665 Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
RS113625622 Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
RS11541795 Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
RS121918070 Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1, Cardiomyopathy
RS121918074 Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
RS121918078 Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
RS121918082 Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
RS121918083 Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1, Cardiovascular phenotype
RS121918084 Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1, Amyloidosis
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