|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
BEFREE |
Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS).
|
22877808 |
2012 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
BEFREE |
Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry.
|
31821430 |
2019 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
BEFREE |
Cardiac findings and events observed in an open-label clinical trial of tafamidis in patients with non-Val30Met and non-Val122Ile hereditary transthyretin amyloidosis.
|
25743445 |
2015 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
BEFREE |
The method was successfully tested using serum from ATTR patients with known variants (Val30-->Met and Val122-->Ile).
|
9949732 |
1999 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
BEFREE |
Transthyretin amyloidosis associated with variant V122I (ATTR V122I) is likely to be an important cause of heart failure in Afro-Caribbean populations, but the high prevalence of left ventricular hypertrophy (LVH) and lack of awareness of this genetic disorder pose diagnostic hurdles.
|
22795285 |
2012 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
BEFREE |
The focus was on the phenotypic expression and survival in the majority of U.S. subjects with valine-to-isoleucine substitution at position 122 (Val122Ile) (n = 91) and wild-type ATTR (n = 189).
|
27386769 |
2016 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.860 |
CausalMutation
|
CLINVAR |
Different disease-causing mutations in transthyretin trigger the same conformational conversion.
|
18276611 |
2008 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.860 |
CausalMutation
|
CLINVAR |
The Val142Ile transthyretin cardiac amyloidosis: more than an Afro-American pathogenic variant.
|
25846356 |
2015 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.860 |
CausalMutation
|
CLINVAR |
Prevalence of the amyloidogenic transthyretin (TTR) V122I allele in 14 333 African-Americans.
|
26123279 |
2015 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.860 |
CausalMutation
|
CLINVAR |
Proteolytic cleavage of Ser52Pro variant transthyretin triggers its amyloid fibrillogenesis.
|
24474780 |
2014 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.860 |
CausalMutation
|
CLINVAR |
The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis.
|
11752443 |
2001 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.860 |
CausalMutation
|
CLINVAR |
Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans.
|
9017939 |
1997 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.860 |
CausalMutation
|
CLINVAR |
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective.
|
22745357 |
2013 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.860 |
CausalMutation
|
CLINVAR |
Comparison of cardiac amyloidosis due to wild-type and V122I transthyretin in older adults referred to an academic medical center.
|
24073013 |
2013 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.860 |
CausalMutation
|
CLINVAR |
The amyloidogenic V122I transthyretin variant in elderly black Americans.
|
25551524 |
2015 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.860 |
CausalMutation
|
CLINVAR |
A homozygous transthyretin variant associated with senile systemic amyloidosis: evidence for a late-onset disease of genetic etiology.
|
2349941 |
1990 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.860 |
CausalMutation
|
CLINVAR |
Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy.
|
25819286 |
2015 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.860 |
CausalMutation
|
CLINVAR |
Significance of the amyloidogenic transthyretin Val 122 Ile allele in African Americans in the Arteriosclerosis Risk in Communities (ARIC) and Cardiovascular Health (CHS) Studies.
|
20435197 |
2010 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.860 |
CausalMutation
|
CLINVAR |
The Val142Ile transthyretin cardiac amyloidosis: not only an Afro-American pathogenic variant? A single-centre Italian experience.
|
26428663 |
2016 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.860 |
CausalMutation
|
CLINVAR |
Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness.
|
26537620 |
2016 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.860 |
CausalMutation
|
CLINVAR |
Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life.
|
24184229 |
2014 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.860 |
CausalMutation
|
CLINVAR |
An Afro-Caribbean patient with a thick heart.
|
24633258 |
2014 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.860 |
CausalMutation
|
CLINVAR |
Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS).
|
22877808 |
2012 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.
|
1351039 |
1992 |
|
rs76992529
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.860 |
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 |