|
rs11541790
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
T |
0.800 |
CausalMutation
|
CLINVAR |
A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy.
|
7643356 |
1995 |
|
rs11541790
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial.
|
24368466 |
2013 |
|
rs11541790
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Genetic microheterogeneity of human transthyretin detected by IEF.
|
17503405 |
2007 |
|
rs11541790
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.800 |
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 |
|
rs11541796
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
G |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs11541796
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
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 |
|
rs11541796
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial.
|
24368466 |
2013 |
|
rs11541796
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
BEFREE |
Since glu42gly has already been seen in Japanese FAP patients, and his90asn has been found in Portuguese and German individuals without FAP, we conclude that his90asn is a nonpathogenic variant.
|
7923855 |
1994 |
|
rs121918068
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu).
|
11445644 |
2001 |
|
rs121918068
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121918068
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Genetic microheterogeneity of human transthyretin detected by IEF.
|
17503405 |
2007 |
|
rs121918068
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
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 |
|
rs121918068
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
C |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121918068
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
BEFREE |
A novel single mutation (Phe33Ile) in a case of FAP with vitreous amyloidosis from India is reported.
|
28412068 |
2017 |
|
rs121918068
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Transthyretin amyloidosis: a new mutation associated with dementia.
|
9066351 |
1997 |
|
rs121918068
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Analyses of prealbumin mRNAs in individuals with familial amyloidotic polyneuropathy.
|
3818577 |
1986 |
|
rs121918068
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient.
|
10211412 |
1999 |
|
rs121918068
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.
|
10071047 |
1999 |
|
rs121918068
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A new transthyretin mutation associated with amyloid cardiomyopathy.
|
1570831 |
1992 |
|
rs121918068
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
"A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient ""SKO"" with familial amyloidotic polyneuropathy."
|
8019560 |
1994 |
|
rs121918068
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Cys114-linked dimers of transthyretin are compatible with amyloid formation.
|
16185074 |
2005 |
|
rs121918068
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient.
|
10439117 |
1999 |
|
rs121918068
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family.
|
7850982 |
1995 |
|
rs121918068
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.
|
12050338 |
2002 |
|
rs121918068
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.
|
1351039 |
1992 |