RGD:8563698 Rat Genome Database

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Variant: RGD:8563698 -  Homo sapiens

RGD ID: 8563698
RS ID: rs121918076
ClinVar ID: CV28468
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTR  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 18 29,175,092
GRCh38 18 31,595,129
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_009490.1:g.8363T>G
NC_000018.10:g.31595129T>G
NC_000018.9:g.29175092T>G
NP_000362.1:p.Ser70Arg
More... 		12/22/2018 missense|missense variant pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters adulthood 6-9 / 10 000|<1 / 1 000 000 AMYLOID CARDIOMYOPATHY; Amyloid polyneuropathy transthyretin related; Amyloidosis Transthyretin related; AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED; Familial amyloid polyneuropathy; Familial Transthyretin Amyloidosis; Hereditary oculoleptomeningeal amyloid angiopathy; none provided; Transthyretin amyloidosis; TTR amyloid neuropathy
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:TTR
Accession:NM_000371
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTRESGELHGLTT
EEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE*
Variant Samples
Additional References at PubMed
PMID:1335038   PMID:2363717   PMID:17577688   PMID:22745357   PMID:22928869   PMID:23713495   PMID:24053266   PMID:25741868   PMID:26959691   PMID:27466465   PMID:28484271   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000014371 CLINVAR
  RCV002415415 CLINVAR
  RCV003480030 CLINVAR
dbSNP (RS) rs121918076 CLINVAR
MedGen C2751492 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene TTR CLINVAR
OMIM 105210 CLINVAR
  176300 CLINVAR
OMIM Allele 176300.0013 CLINVAR
SNOMED CT 43532007 CLINVAR