RGD:13791501 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:13791501 -  Homo sapiens

RGD ID: 13791501
RS ID: rs1554691572
ClinVar ID: CV545061
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 111,640,430
GRCh38 9 108,878,150
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_251:g.61179G>A
NG_008788.1:g.61179G>A
NC_000009.12:g.108878150C>T
NC_000009.11:g.111640430C>T
More... 		06/02/2017 splice acceptor variant likely pathogenic FD; Hereditary sensory and autonomic neuropathy 3; Hereditary sensory neuropathy type 3; HSAN 3; HSAN III; HSN 3; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; none provided; Riley Day syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ELP1
Accession:NM_001330749
Location:INTRON

Gene Symbol:ELP1
Accession:XM_047423991
Location:INTRON

Gene Symbol:ELP1
Accession:NM_003640
Location:INTRON

Gene Symbol:ELP1
Accession:NM_001318360
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:18303054   PMID:24173031   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000667528 CLINVAR
  RCV003767957 CLINVAR
dbSNP (RS) rs1554691572 CLINVAR
MedGen C0013364 CLINVAR
  C3661900 CLINVAR
NCBI Gene ELP1 CLINVAR
OMIM 223900 CLINVAR
  603722 CLINVAR
SNOMED CT 29159009 CLINVAR