RGD:34897052 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:34897052 -  Homo sapiens

RGD ID: 34897052
RS ID: rs568325297
ClinVar ID: CV916553
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBN1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 48,720,680
GRCh38 15 48,428,483
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000015.9:g.48720680T>C
LRG_778t1:c.6872-12A>G
NM_000138.5:c.6872-12A>G
LRG_778:g.222306A>G
More... 		05/03/2019 intron variant likely benign Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome type 1; Marfan syndrome, classic; MARFAN SYNDROME, TYPE I; Marfan's syndrome; none provided; Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FBN1
Accession:NM_001406716
Location:INTRON

Gene Symbol:FBN1
Accession:NM_000138
Location:INTRON

Gene Symbol:FBN1
Accession:NM_001406718
Location:INTRON

Gene Symbol:FBN1
Accession:NM_001406717
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001186135 CLINVAR
  RCV001811689 CLINVAR
  RCV003770078 CLINVAR
dbSNP (RS) rs568325297 CLINVAR
MedGen C0024796 CLINVAR
  C3661900 CLINVAR
  C4707243 CLINVAR
NCBI Gene FBN1 CLINVAR
OMIM 134797 CLINVAR
  154700 CLINVAR
SNOMED CT 19346006 CLINVAR