RGD:8690954 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:8690954 -  Homo sapiens

RGD ID: 8690954
RS ID: rs3812153
ClinVar ID: CV140909
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELOVL4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 80,626,375
GRCh38 6 79,916,658
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.79916658T>C
NC_000006.11:g.80626375T>C
NM_022726.3:c.895A>G
Q9GZR5:p.Met299Val
More... 		07/30/2021 missense variant benign AllHighlyPenetrant; Erythrokeratodermia with ataxia; Giroux Barbeau Syndrome; ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT; Ichthyosis, spastic quadriplegia, and mental retardation; MACULAR DYSTROPHY WITH FLECKS, TYPE 3; none provided; STARGARDT-LIKE MACULAR DYSTROPHY, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ELOVL4
Accession:NM_022726
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 299
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLLDSEPGSVLNVVSTALNDTVEFYRWTWSIADKRVENWPLMQSPWPTLSISTLYLLFVWLGPKWMKDREPFQMRLVLI
IYNFGMVLLNLFIFRELFMGSYNAGYSYICQSVDYSNNVHEVRIAAALWWYFVSKGVEYLDTVFFILRKKNNQVSFLHVY
HHCTMFTLWWIGIKWVAGGQAFFGAQLNSFIHVIMYSYYGLTAFGPWIQKYLWWKRYLTMLQLIQFHVTIGHTALSLYTD
CPFPKWMHWALIAYAISFIFLFLNFYIRTYKEPKKPKAGKTAMNGISANGVSKSEKQLVIENGKKQKNGKAKGD*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000153195 CLINVAR
  RCV000305578 CLINVAR
  RCV001514429 CLINVAR
  RCV001657789 CLINVAR
  RCV001657790 CLINVAR
dbSNP (RS) rs3812153 CLINVAR
MedGen C1838644 CLINVAR
  C1851481 CLINVAR
  C3280856 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ELOVL4 CLINVAR
OMIM 133190 CLINVAR
  600110 CLINVAR
  605512 CLINVAR
  614457 CLINVAR