RGD:14706345 Rat Genome Database

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Variant: RGD:14706345 -  Homo sapiens

RGD ID: 14706345
RS ID: rs1598844137
ClinVar ID: CV647188
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 18 29,172,926
GRCh38 18 31,592,963
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000371.4:c.137T>C
NP_000362.1:p.Ile46Thr
LRG_416t1:c.137T>C
LRG_416:g.6197T>C
More... 		10/25/2020 missense variant uncertain significance 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: I to T (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPATNVAVHVFRKAADDTWEPFASGKTSESGELHGLTT
EEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000791969 CLINVAR
dbSNP (RS) rs1598844137 CLINVAR
MedGen C2751492 CLINVAR
NCBI Gene TTR CLINVAR
OMIM 105210 CLINVAR
  176300 CLINVAR
SNOMED CT 43532007 CLINVAR