RGD:14730838 Rat Genome Database

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Variant: RGD:14730838 -  Homo sapiens

RGD ID: 14730838
RS ID: rs1598844184
ClinVar ID: CV647189
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTR  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 18 29,172,949
GRCh38 18 31,592,986
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000371.3:c.160A>G
LRG_416t1:c.160A>G
LRG_416:g.6220A>G
NG_009490.1:g.6220A>G
More... 		02/28/2019 missense variant pathogenic|likely pathogenic AMYLOID CARDIOMYOPATHY; Amyloid polyneuropathy transthyretin related; Amyloidosis Transthyretin related; AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED; Familial amyloid polyneuropathy; Familial Transthyretin Amyloidosis; Hereditary oculoleptomeningeal amyloid angiopathy; 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: R to G (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFGKAADDTWEPFASGKTSESGELHGLTT
EEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE*
Variant Samples
Additional References at PubMed
PMID:9605286   PMID:21692911   PMID:22187309   PMID:22745357   PMID:22973891   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000817566 CLINVAR
dbSNP (RS) rs1598844184 CLINVAR
MedGen C2751492 CLINVAR
NCBI Gene TTR CLINVAR
OMIM 105210 CLINVAR
  176300 CLINVAR
SNOMED CT 43532007 CLINVAR