Gene: TTR ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR Direct tissue evaluation via immunofluorescence: in the diagnosis of hereditary transthyretin cardiac amyloidosis. 22412233

2012
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (Ala97 to Gly). 8133316

1994
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR These five FAP patients shared an identical missense mutation, Ala97Ser, in the TTR gene. 18022643

2008
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR This study investigated skin innervation and its clinical significance in genetically defined FAP due to a hot-spot Ala97Ser TTR mutation (Ala97Ser). 20697105

2010
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR The hereditary amyloidoses. 15123043

2003
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR Tabulation of human transthyretin (TTR) variants, 2003. 14640030

2003
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR Hereditary Transthyretin Amyloidosis in Eight Chinese Families. 26521788

2015
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR Liver transplantation and combined liver-heart transplantation in patients with familial amyloid polyneuropathy: a single-center experience. 20209591

2010
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR ATTR Phe33Val was found in a Chinese FAP patient and ATTR Ala97Ser in a Taiwanese. 10611950

1999
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR Our study included 8 cases of acquired monoclonal immunoglobulin light chain amyloidosis, 11 cases of transthyretin amyloidosis (3 with the Val30Met mutation, 2 with the Val32Ala mutation, 2 with the Thr60Ala mutation, 1 with the Ala109Ser mutation, 1 with the Phe64Leu mutation, 1 with the Ala97Ser mutation, and 1 not sequenced), and 2 cases of gelsolin amyloidosis (1 with the Asp187Asn mutation and 1 not sequenced). 20937937

2011
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR Transthyretin mutations in hyperthyroxinemia and amyloid diseases. 11385707

2001
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis. 23713495

2013
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR Pathology and functional diagnosis of small-fiber painful neuropathy. 20714957

2010
dbSNP: rs267607161
rs267607161
TTR
T 0.870 CausalMutation CLINVAR Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy. 14986482

2003
dbSNP: rs121918080
rs121918080
TTR
T 0.810 CausalMutation CLINVAR

dbSNP: rs11541790
rs11541790
TTR
T 0.800 CausalMutation CLINVAR A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy. 7643356

1995
dbSNP: rs11541790
rs11541790
TTR
T 0.800 CausalMutation CLINVAR Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses. 24650283

2014
dbSNP: rs11541790
rs11541790
TTR
T 0.800 CausalMutation CLINVAR Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
dbSNP: rs121918085
rs121918085
TTR
T 0.800 GeneticVariation CLINVAR Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis. 28635949

2017
dbSNP: rs121918085
rs121918085
TTR
T 0.800 GeneticVariation CLINVAR Asymptomatic homozygous gene carrier in a family with Ile68Leu ATTR amyloidosis: a new endemic region in northern Tuscany? 21540676

2011
dbSNP: rs121918085
rs121918085
TTR
T 0.800 GeneticVariation CLINVAR Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu. 14640031

2003
dbSNP: rs121918085
rs121918085
TTR
T 0.800 GeneticVariation CLINVAR Genetic microheterogeneity of human transthyretin detected by IEF. 17503405

2007
dbSNP: rs121918085
rs121918085
TTR
T 0.800 GeneticVariation CLINVAR Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant. 8038017

1993
dbSNP: rs121918085
rs121918085
TTR
T 0.800 GeneticVariation CLINVAR Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis. 23713495

2013
dbSNP: rs121918085
rs121918085
TTR
T 0.800 GeneticVariation CLINVAR Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. 22745357

2013