{{Rsnum
|rsid=28933981
|Gene=TTR
|Chromosome=18
|position=31598647
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.001837
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=TTR
}}{{omim
|desc=PREALBUMIN CHICAGO
|id=176300
|rsnum=28933981
|variant=0018
}}
{{ neighbor
| rsid = 28933982
| distance = 30
}}
{{ neighbor
| rsid = 28933980
| distance = 8
}}{{ClinVar
|rsid=28933981
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=29178610
|CHROM=18
|GMAF=0.0018
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050370000000040016110100
|GENEINFO=TTR:7276
|GENE_NAME=TTR
|GENE_ID=7276
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000018.9:g.29178610C>T
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;TPA;S3D;SLO;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9982; 0.001837
|CLNACC=RCV000014376.16; RCV000036376.1
|CLNDBN=AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF; AllHighlyPenetrant
|CLNDSDB=MedGen
|CLNDSDBID=CN169374
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=176300.0018
|COMMON=1
|Disease=AMYLOIDOSIS; AllHighlyPenetrant
}}{{GET Evidence
|gene=TTR
|aa_change=Thr139Met
|aa_change_short=T139M
|impact=protective
|qualified_impact=Low clinical importance, Uncertain protective
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs28933981
|overall_frequency_n=26
|overall_frequency_d=10758
|overall_frequency=0.00241681
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=!
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|qualitycomment_in_vitro=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=4
|qualitycomment_severity=Y
|qualityscore_treatability=1
|gene_in_genetests=Y
|pph2_score=1.0
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=5
|webscore=Y
|variant_evidence=0
|clinical_importance=0
|summary_short=This variant is reported to have a protective effect in carriers of the V30M variant in this gene -- V30M causes familial amyloidosis, but this variant appears to protect against that pathogenic effect.
}}