RGD:8688867 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:8688867 -  Homo sapiens

RGD ID: 8688867
RS ID: rs137854886
ClinVar ID: CV136585
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LTBP2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 74,975,446
GRCh38 14 74,508,743
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021486.1:g.108589T>C
NC_000014.9:g.74508743A>G
NC_000014.8:g.74975446A>G
NM_000428.3:c.3527-14T>C
More... 		12/17/2021 intron variant benign|uncertain significance Exfoliation Syndrome; Mesodermal dysmorphodystrophy congenital; none provided; PSEUDOEXFOLIATION OF THE LENS; PSEUDOEXFOLIATION SYNDROME; WM Syndrome
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:LTBP2
Accession:NM_000428
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000119305 CLINVAR
  RCV000338981 CLINVAR
  RCV000406146 CLINVAR
  RCV002055312 CLINVAR
dbSNP (RS) rs137854886 CLINVAR
MedGen C0206368 CLINVAR
  C0265313 CLINVAR
  C2751316 CLINVAR
  C3661900 CLINVAR
NCBI Gene LTBP2 CLINVAR
OMIM 177650 CLINVAR
  602091 CLINVAR
  613086 CLINVAR
SNOMED CT 111514006 CLINVAR