Variant: rs104894665 

    present in Gene: TTR
    present in Chromosome: 18
    Position on Chromosome: 31593017
    Alleles of this Variant: T/C

rs104894665 in TTR gene and AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED PMID 3818577 1986 Analyses of prealbumin mRNAs in individuals with familial amyloidotic polyneuropathy.

PMID 25173338 2014 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).

PMID 2891727 1988 Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis.

PMID 7850982 1995 A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family.

PMID 8019560 1994 "A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient ""SKO"" with familial amyloidotic polyneuropathy."

PMID 1570831 1992 A new transthyretin mutation associated with amyloid cardiomyopathy.

PMID 17503405 2007 Genetic microheterogeneity of human transthyretin detected by IEF.

PMID 12050338 2002 Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.

PMID 1351039 1992 Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.

PMID 24368466 2013 Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial.

PMID 12403615 2002 Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro.

PMID 10439117 1999 A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient.

PMID 17453626 2007 A new transthyretin variant (Glu61Gly) associated with cardiomyopathy.

PMID 9066351 1997 Transthyretin amyloidosis: a new mutation associated with dementia.

PMID 15214015 2004 A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys).

PMID 10436378 1999 Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotopic RNase cleavage assay.

PMID 11445644 2001 Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu).

PMID 16185074 2005 Cys114-linked dimers of transthyretin are compatible with amyloid formation.

PMID 10611950 1999 Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy.

PMID 2161654 1990 A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases.

PMID 10211412 1999 A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient.

PMID 10071047 1999 Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.