LOVD TTR homepage

General information
Gene name Transthyretin
Gene symbol TTR
Chromosome Location 18q12.1
Database location the Leiden Muscular Dystrophy pages
Curator Jorge Oliveira
PubMed references View all (unique) PubMed references in the TTR database
Date of creation April 29, 2010
Last update March 29, 2013
Version TTR130329
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_009490.1
Transcript refseq ID NM_000371.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the TTR database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 12405
Entrez Gene 7276
OMIM - Gene 176300
OMIM - Disease #1 euthyroid hyperthyroxinemia
OMIM - Disease #2 amyloidosis, hereditary, transthyretin related
OMIM - Disease #3 euthyroid hyperthyroxinemia
OMIM - Disease #4 carpal tunnel syndrome (CTS1)
UniProtKB (SwissProt/TrEMBL) P02766
HGMD TTR
GeneCards TTR
GeneTests TTR

Copyright & disclaimer
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