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
0.900 GeneticVariation UNIPROT Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro. 12403615

2002
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. 12050338

2002
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR A case of familial amyloid polyneuropathy homozygous for the transthyretin Val30Met gene with motor-dominant sensorimotor polyneuropathy and unusual sural nerve pathological findings. 11709003

2001
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu). 11445644

2001
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Transthyretin mutations in hyperthyroxinemia and amyloid diseases. 11385707

2001
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient. 10439117

1999
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotopic RNase cleavage assay. 10436378

1999
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. 10071047

1999
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient. 10211412

1999
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT A matrix-assisted laser desorption ionization/time-of-flight (MALDI/TOF) mass spectrometry (MS) system was used to detect variant transthyretin (TTR) in immunoprecipitated serum TTR molecules obtained from 6 patients with familial amyloid polyneuropathy (FAP) who were already proven not to have ATTR Val30Met. 10611950

1999
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Transthyretin amyloidosis: a new mutation associated with dementia. 9066351

1997
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family. 7850982

1995
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT "A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient ""SKO"" with familial amyloidotic polyneuropathy." 8019560

1994
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT A new transthyretin mutation associated with amyloid cardiomyopathy. 1570831

1992
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement. 1351039

1992
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases. 2161654

1990
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis. 2891727

1988
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Analyses of prealbumin mRNAs in individuals with familial amyloidotic polyneuropathy. 3818577

1986
dbSNP: rs28933979
rs28933979
TTR
A 0.900 CausalMutation CLINVAR Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin). 6736244

1984
dbSNP: rs28933979
rs28933979
TTR
C 0.900 CausalMutation CLINVAR

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 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 Direct tissue evaluation via immunofluorescence: in the diagnosis of hereditary transthyretin cardiac amyloidosis. 22412233

2012
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 Liver transplantation and combined liver-heart transplantation in patients with familial amyloid polyneuropathy: a single-center experience. 20209591

2010