{{Rsnum
|rsid=76992529
|Gene=TTR
|Chromosome=18
|position=31598655
|Orientation=plus
|GMAF=0.005969
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=TTR
}}{{omim
|id=176300
|rsnum=76992529
|variant=0009
}}{{ClinVar
|rsid=76992529
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=29178618
|CHROM=18
|GMAF=0.006
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050268000000040416110100
|GENEINFO=TTR:7276
|GENE_NAME=TTR
|GENE_ID=7276
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000018.9:g.29178618G>A
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=10685; 176300.0009
|CLNSIG=5
|CLNCUI=C2751492
|CLNDBN=Amyloidogenic transthyretin amyloidosis; Amyloid Cardiomyopathy, Transthyretin-related; not provided
|Disease=Amyloidogenic transthyretin amyloidosis; Amyloid Cardiomyopathy; not provided
|CLNACC=RCV000014368.17; RCV000030575.1; RCV000078674.1
|Tags=PM;PMC;S3D;VLD;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.994; 0.005969
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT:SNOMED_CT:SNOMED_CT
|CLNDSDBID=NBK1194:C2751492:105210:85447:85451:16573007:43532007:442012008
|COMMON=1
}}{{PMID|166310}} Letter: Diagnosis of neuronal ceroid lipofuscinosis by electron microscopy of urinary sediment.

{{PMID|2237288}} Cardiac amyloidosis: report of a patient heterozygous for the transthyretin isoleucine 122 variant.

{{PMID|11752443|OA=1
}} The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis.

{{PMID|12874413}} Medical errors on an inpatient neurology service.

{{PMID|15123043}} The hereditary amyloidoses.

{{PMID|17503405}} Genetic microheterogeneity of human transthyretin detected by IEF.