RGD:8614807 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:8614807 -  Homo sapiens

RGD ID: 8614807
RS ID: rs138642693
ClinVar ID: CV68595
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 117,305,628
GRCh38 7 117,665,574
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
NG_016465.4:g.204791T>C
NC_000007.14:g.117665574T>C
NC_000007.13:g.117305628T>C
NM_000492.4:c.4242+10T>C
More... 		12/15/2021 intron|intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided all ages|neonatal/infancy 1-5 / 10 000|1-9 / 100 000 AllHighlyPenetrant; Mucoviscidosis; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CFTR
Accession:NM_000492
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11379874   PMID:25087612   PMID:26467025   PMID:28040058   PMID:28408918   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000079004 CLINVAR
  RCV001080172 CLINVAR
  RCV001158877 CLINVAR
  RCV001528665 CLINVAR
dbSNP (RS) rs138642693 CLINVAR
MedGen C0010674 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CFTR CLINVAR
OMIM 219700 CLINVAR
  602421 CLINVAR
SNOMED CT 190905008 CLINVAR