Gene: TTR ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Three Turkish families with different transthyretin mutations. 26115788

2015
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Unexplained cardiac failure leading to the identification of a Belgian family affected by hereditary amyloidosis. 24455802

2014
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Evidence of the presence of amyloid substance in the blood of familial amyloidotic polyneuropathy patients with ATTR Val30Met mutation. 25550818

2014
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Gene expression analysis was used to unravel the genetic profiles of Swedish ATTR V30M patients and controls. 24601850

2014
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. 22745357

2013
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. 24368466

2013
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Inability of mutant transthyretin V30M to cross the blood-eye barrier. 23080516

2012
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Genotype--phenotype correlation in FAP. 22620962

2012
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Distinct characteristics of amyloid deposits in early- and late-onset transthyretin Val30Met familial amyloid polyneuropathy. 19709674

2009
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Heart failure and cardiac involvement as isolated manifestation of familial form of transthyretin amyloidosis resulting from Val30Met mutation with no clinical signs of polyneuropathy. 19808383

2009
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. 18925456

2008
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT A new transthyretin variant (Glu61Gly) associated with cardiomyopathy. 17453626

2007
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). 17698792

2007
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Cardiomyopathy in Swedish patients with the Gly53Glu and His88Arg transthyretin variants. 16194874

2005
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Cys114-linked dimers of transthyretin are compatible with amyloid formation. 16185074

2005
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR The biological and chemical basis for tissue-selective amyloid disease. 15820680

2005
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR A Swedish family with the rare Phe33Leu transthyretin mutation. 16194875

2005
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys). 15214015

2004
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Amyloidogenic and anti-amyloidogenic properties of recombinant transthyretin variants. 15185492

2004
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy. 15249622

2004
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Cardiac amyloidosis occurs in the classical form of FAP with ATTR Val30Met, especially in older patients, and is also a common clinical manifestation in FAP patients with non-Val30Met ATTRs. 14986482

2003
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Tabulation of human transthyretin (TTR) variants, 2003. 14640030

2003
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR It is also noteworthy that serious cardiac amyloidosis is commonly seen in patients with FAP of the non-Val30Met TTR type. 11940682

2002