RGD:597630247 Rat Genome Database

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Variant: RGD:597630247 -  Homo sapiens

RGD ID: 597630247
ClinVar ID: CV3657239
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 137,714,000
GRCh38 9 134,822,154
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000009.11:g.137714000T>G
NM_000093.3:c.4608+4T>G
LRG_737t2:c.4608+4T>G
NM_000093.5:c.4608+4T>G
More... 		07/03/2024 intron variant uncertain significance Thoracic aortic aneurysms and dissections
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3657239Humanthoracic aortic aneurysm  IAGP 8554872ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissectionsClinVar 


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Database
Acc Id
Source(s)
ClinVar RCV004822581 CLINVAR
MedGen C4707243 CLINVAR
NCBI Gene COL5A1 CLINVAR
  LOC101448202 CLINVAR
OMIM 120215 CLINVAR