RGD:8556009 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:8556009 -  Homo sapiens

RGD ID: 8556009
RS ID: rs1801020
ClinVar ID: CV16206
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F12  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 176,836,532
GRCh38 5 177,409,531
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_145t1:c.-4T>C
NC_000005.10:g.177409531A>G
NC_000005.9:g.176836532A>G
NM_000505.4:c.-4T>C
More... 		11/10/2018 5 prime utr variant|utr-5 benign AllHighlyPenetrant; ANGIONEUROTIC EDEMA, HEREDITARY, WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION; Coagulation factor 12 deficiency; Congenital factor XII deficiency; ESTROGEN-RELATED HAE; ESTROGEN-SENSITIVE HAE; F12 deficiency; Factor 12 deficiency; HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION; HAF deficiency; Hereditary angioedema, type III; none provided; Reduced factor XII activity
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:F12
Accession:NM_000505
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:SLC34A1
Accession:NM_003052
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:F12
Accession:XM_011534462
Location:INTRON

Gene Symbol:SLC34A1
Accession:NM_001167579
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9490684   PMID:11843842   PMID:20303064   PMID:24033266   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000001226 CLINVAR
  RCV000242780 CLINVAR
  RCV000293630 CLINVAR
  RCV000346234 CLINVAR
  RCV001723528 CLINVAR
dbSNP (RS) rs1801020 CLINVAR
MedGen C0015526 CLINVAR
  C1857728 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene F12 CLINVAR
OMIM 234000 CLINVAR
  610618 CLINVAR
  610619 CLINVAR
OMIM Allele 610619.0004 CLINVAR
SNOMED CT 46981006 CLINVAR