RGD:13525272 Rat Genome Database

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Variant: RGD:13525272 -  Homo sapiens

RGD ID: 13525272
RS ID: rs1453023289
ClinVar ID: CV507350
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 29,171,941
GRCh38 18 31,591,978
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000018.9:g.29171941G>A
NG_009490.1:g.5212G>A
LRG_416:g.5212G>A
NC_000018.10:g.31591978G>A
More... 		10/31/2017 intron variant likely benign AllHighlyPenetrant; 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:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000602936 CLINVAR
  RCV003626633 CLINVAR
dbSNP (RS) rs1453023289 CLINVAR
MedGen C2751492 CLINVAR
  CN169374 CLINVAR
NCBI Gene TTR CLINVAR
OMIM 105210 CLINVAR
  176300 CLINVAR
SNOMED CT 43532007 CLINVAR