RGD:11588737 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:11588737 -  Homo sapiens

RGD ID: 11588737
RS ID: rs9332675
ClinVar ID: CV278222
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 169,482,433
GRCh38 1 169,513,195
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_000130.4:c.*1118G>A
LRG_553t1:c.*1118G>A
LRG_553:g.78337G>A
NG_011806.1:g.78337G>A
More... 		01/13/2018 3 prime utr variant benign|likely benign all ages 1-9 / 1 000 000|1-9 / 100 000|20210g>a heterozygosity occurs in 1.7%-3% of the general us and european populations; in the us, the prevalence of 20210g>a heterozygosity is 2%-5% in whites and 0%-0.3% in african americans; among adults with vte, 20210g>a heterozygosity is present in 6%-14% of those with a first vte, and 18%-21% of those with a personal or family history of recurrent vte; the prevalence of 20210g>a homozygosity is approximately one in 10,000. double heterozygosity for the 20210g>a and factor v leiden alleles occurs in approximately one in 1000 individuals in the general population and 2%-4.5% of persons with vte|heterozygosity for factor v leiden occurs in 3%-8% of the general us and european populations; the mutation is extremely rare in asian, african, and indigenous australian populations. the factor v leiden mutation is present in approximately 15%-20% of individuals with a first dvt; and up to 50% of individuals with recurrent venous thromboembolism or an estrogen-related thrombosis. APC RESISTANCE; Hepatic vein obstruction; Hereditary Resistance to Activated Protein C; PCCF DEFICIENCY; PROC COFACTOR DEFICIENCY; Prothrombin-Related Thrombophilia (Factor II); Reduced coagulation factor V activity; THROMBOPHILIA DUE TO DEFICIENCY OF ACTIVATED PROTEIN C COFACTOR; THROMBOPHILIA DUE TO FACTOR 2 DEFECT; THROMBOPHILIA V; Thrombosis susceptibility
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:F5
Accession:NM_000130
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000305387 CLINVAR
  RCV000309296 CLINVAR
  RCV000340867 CLINVAR
  RCV000392396 CLINVAR
dbSNP (RS) rs9332675 CLINVAR
MedGen C0856761 CLINVAR
  C1861171 CLINVAR
  C3160733 CLINVAR
  C4317320 CLINVAR
NCBI Gene F5 CLINVAR
OMIM 188050 CLINVAR
  188055 CLINVAR
  600880 CLINVAR
  612309 CLINVAR
SNOMED CT 4320005 CLINVAR
  82385007 CLINVAR