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 A new transthyretin variant (Glu61Gly) associated with cardiomyopathy. 17453626

2007
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT A new transthyretin mutation associated with amyloid cardiomyopathy. 1570831

1992
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
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
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 It is also noteworthy that serious cardiac amyloidosis is commonly seen in patients with FAP of the non-Val30Met TTR type. 11940682

2002
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 A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys). 15214015

2004
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 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 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 A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family. 7850982

1995
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 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 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 Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. 10071047

1999
dbSNP: rs28933979
rs28933979
TTR
0.900 GeneticVariation UNIPROT Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. 12050338

2002
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 Transthyretin amyloidosis: a new mutation associated with dementia. 9066351

1997
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 Unexplained cardiac failure leading to the identification of a Belgian family affected by hereditary amyloidosis. 24455802

2014
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 Amyloidogenic and anti-amyloidogenic properties of recombinant transthyretin variants. 15185492

2004
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
C 0.900 CausalMutation CLINVAR