Gene

TTR

transthyretin

Cytogenetic location: 18q12.1
Coordinates: Chromosome 18: 31,591,877–31,598,821 (GRCh38)
Exons: 4 exons across 6.9 kb
Protein: 147 amino acids
Inheritance: Autosomal dominant
Also known as: HsT2651, CTS
Previous symbols: PALB, CTS1
MANE Select transcript: ENST00000237014.8NM_000371.4
Locus type: gene with protein product

Very high
Confident
Low
Very low

Reference genomeGRCh38hg38

Positions on gene and variant pages follow this choice, in this browser.

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Curated report relevant to this gene

Hereditary Amyloidosis
- Autosomal dominant
  Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR), a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII).
  - ClinGen rates the link definitive
  - 5 GenCC submitters rate it definitive or strong
  - On the ACMG secondary findings list
  What knowing changes
  Tafamidis (kinetic stabilizer), patisiran (RNAi), vutrisiran (RNAi), inotersen (antisense), liver transplantation

Inheritance

Autosomal dominant: One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How TTR is laid out

Coding sequence
Untranslated region
Intron
Direction of transcription
Known disease-causing sites
Stretches short reads find hard
Variants with a page

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 0.6 kb of the gene's 6.9 kb; 444 of those bases code for the protein.

How a genome test reads TTR

positions in TTR where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 6.9 kb of TTR, introns included, not only the 0.6 kb of exons.

Variants with a page (36)

The TTR variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

Variant	HGVS c.	Exon or intron	Position (GRCh38)	ClinVar classification	Review status
A39D	c.116C>A	Exon 2	31,592,942	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
A101V	c.302C>T	Exon 3	31,595,221	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
A117S	c.349G>T	Exon 4	31,598,580	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.210T>A		Exon 3	31,595,129	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.252T>G		Exon 3	31,595,171	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
C30R	c.88T>C	Exon 2	31,592,914	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
D38G	c.113A>G	Exon 2	31,592,939	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
D58A	c.173A>C	Exon 2	31,592,999	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
E82K	c.244G>A	Exon 3	31,595,163	Pathogenic/likely pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts
E109K	c.325G>A	Exon 3	31,595,244	Pathogenic	2 stars out of 4 criteria provided, multiple submitters, no conflicts

See all 36 TTR variants →

Traits linked to TTR

The Human Phenotype Ontology lists these as features of the rare conditions TTR can cause. Each trait's page lists the other genes linked to it.

Abnormality of the nervous system

Show 17 more traits

Abnormality of the cardiovascular system

Show 10 more traits

Abnormality of the eye

Laboratory abnormality

Abnormality of the musculoskeletal system

Abnormality of the digestive system

Abnormality of the genitourinary system

Abnormality of blood and blood-forming tissues

Abnormality of the ear

External links

Gene records

Transcript

Protein

Variants

Clinical

Where this comes from

HGNC: the gene's symbol, name, other symbols and location.
MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
The ACMG secondary findings list, SF v3.2.
ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). TTR gene: transthyretin. Retrieved 16 October 2026, from https://dantelabs.com/genes/ttr

Vancouver

Dante Labs. TTR gene: transthyretin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ttr

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