The TTR gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
General information
Gene symbol TTR
Gene name transthyretin
Chromosome 18
Chromosomal band q12.1
Imprinted Unknown
Genomic reference NG_009490.1
Transcript reference NM_000371.3
Exon/intron information NM_000371.3 exon/intron table
Associated with diseases CTS1, DTTRH, amyloidosis, hereditary, transthyretin-related
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Jorge Oliveira
Total number of public variants reported 883
Unique public DNA variants reported 192
Individuals with public variants 189
Hidden variants 6
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
The origin of this database was the DATABASE ON TRANSTHYRETIN MUTATIONS established by Maria Jo„o Mascarenhas Saraiva (Feb.2011, at Later the data were shared with Amyloidosis consortium (
Date created April 29, 2010
Date last updated November 27, 2023
Version TTR:231127

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000371.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Amyloidosis consortium
HGNC 12405
Entrez Gene 7276
PubMed articles TTR
OMIM - Gene 176300
OMIM - Diseases CTS1 (carpal tunnel syndrome, familial (CTS-1))
DTTRH (hyperthyroxinemia, euthyroidal, dystransthyretinemic)
amyloidosis, hereditary, transthyretin-related
GeneCards TTR
GeneTests TTR
Orphanet TTR

Active transcripts




NCBI ID     

NCBI Protein ID     

00022076 18 transthyretin NM_000371.3 NP_000362.1 883

Copyright & disclaimer
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