RGD:152084650 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:152084650 -  Homo sapiens

RGD ID: 152084650
RS ID: rs772021650
ClinVar ID: CV1537644
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLCN  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 17,117,189
GRCh38 17 17,213,875
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001353230.2:c.1539-19T>C
NM_001353231.2:c.1539-19T>C
NM_144997.7:c.1539-19T>C
NM_001353229.2:c.1593-19T>C
More... 		12/16/2021 intron variant likely benign BHD syndrome; Birt Hogg Dubé syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FLCN
Accession:NM_144997
Location:INTRON

Gene Symbol:FLCN
Accession:NM_144606
Location:INTRON

Gene Symbol:FLCN
Accession:XM_011523718
Location:INTRON

Gene Symbol:FLCN
Accession:XM_011523714
Location:INTRON

Gene Symbol:FLCN
Accession:XM_011523721
Location:INTRON

Gene Symbol:FLCN
Accession:XM_017024309
Location:INTRON

Gene Symbol:FLCN
Accession:XM_017024305
Location:INTRON

Gene Symbol:FLCN
Accession:XM_017024308
Location:INTRON

Gene Symbol:FLCN
Accession:NM_001353231
Location:INTRON

Gene Symbol:FLCN
Accession:NM_001353230
Location:INTRON

Gene Symbol:FLCN
Accession:NM_001353229
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435536
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435531
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435541
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435538
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435534
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435537
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435532
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435540
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435535
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435533
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435539
Location:INTRON

Gene Symbol:FLCN
Accession:XM_047435542
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002149765 CLINVAR
dbSNP (RS) rs772021650 CLINVAR
MedGen C0346010 CLINVAR
NCBI Gene FLCN CLINVAR
OMIM 135150 CLINVAR
  607273 CLINVAR
SNOMED CT 1263460007 CLINVAR