RGD:13464435 Rat Genome Database

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Variant: RGD:13464435 -  Homo sapiens

RGD ID: 13464435
RS ID: rs1469623969
ClinVar ID: CV467969
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTR  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 18 29,171,927
GRCh38 18 31,591,964
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_416t1:c.62G>C
LRG_416:g.5198G>C
NG_009490.1:g.5198G>C
NC_000018.10:g.31591964G>C
More... 		03/15/2017 missense variant uncertain significance AMYLOID CARDIOMYOPATHY; Amyloid polyneuropathy transthyretin related; Amyloidosis Transthyretin related; AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED; Cardiomyopathies; 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: G to A (nonsynonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASHRLLLLCLAGLVFVSEAAPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTT
EEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000542108 CLINVAR
  RCV003150270 CLINVAR
dbSNP (RS) rs1469623969 CLINVAR
MedGen C0878544 CLINVAR
  C2751492 CLINVAR
NCBI Gene TTR CLINVAR
OMIM 105210 CLINVAR
  176300 CLINVAR
SNOMED CT 43532007 CLINVAR
  85898001 CLINVAR