RGD:11612883 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:11612883 -  Homo sapiens

RGD ID: 11612883
RS ID: rs546827390
ClinVar ID: CV331055
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBLN5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 92,413,630
GRCh38 14 91,947,286
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_364t1:c.-57G>A
LRG_364:g.5417G>A
NG_008254.1:g.5417G>A
NC_000014.9:g.91947286C>T
More... 		01/12/2018 5 prime utr variant benign|likely benign
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cutis laxa  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:FBLN5
Accession:NM_006329
Location:5UTRS;EXON

Gene Symbol:FBLN5
Accession:NM_001384160
Location:5UTRS;EXON

Gene Symbol:FBLN5
Accession:NM_001384161
Location:5UTRS;EXON

Gene Symbol:FBLN5
Accession:NM_001384158
Location:5UTRS;EXON

Gene Symbol:FBLN5
Accession:NM_001384162
Location:5UTRS;EXON

Gene Symbol:FBLN5
Accession:NM_001384159
Location:INTRON

Gene Symbol:FBLN5
Accession:XM_011536356
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000262943 CLINVAR
  RCV000352947 CLINVAR
dbSNP (RS) rs546827390 CLINVAR
MedGen C0010495 CLINVAR
  C1837187 CLINVAR
NCBI Gene FBLN5 CLINVAR
OMIM 604580 CLINVAR
  608895 CLINVAR
SNOMED CT 58588007 CLINVAR