rs757673905 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 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
Advanced Search (OLGA)

Variant: rs757673905 -  Homo sapiens

RGD ID: 14725509
RS ID: rs757673905
ClinVar ID: CV650745
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126805688  YARS1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 33,252,051
GRCh38 1 32,786,450
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003680.3:c.821-3T>C
LRG_273t1:c.821-3T>C
LRG_273:g.36583T>C
NG_008408.1:g.36583T>C
More... 		02/08/2024 intron variant uncertain significance AllHighlyPenetrant; CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:YARS1
Accession:NM_003680
Location:INTRON

Gene Symbol:YARS1
Accession:XM_011542347
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000815224 CLINVAR
  RCV003994127 CLINVAR
dbSNP (RS) rs757673905 CLINVAR
MedGen C1842237 CLINVAR
  CN169374 CLINVAR
NCBI Gene LOC126805688 CLINVAR
  YARS1 CLINVAR
OMIM 603623 CLINVAR
  608323 CLINVAR