RGD:14744623 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:14744623 -  Homo sapiens

RGD ID: 14744623
RS ID: rs746487171
ClinVar ID: CV653550
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYOM1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 3,129,521
GRCh38 18 3,129,523
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_426t1:c.2507-4G>A
NM_019856.2:c.2506+1852G>A
LRG_426:g.95586G>A
NG_032120.1:g.95586G>A
More... 		12/28/2018 intron variant uncertain significance HYPERTROPHIC MYOCARDIOPATHY
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:MYOM1
Accession:NM_003803
Location:INTRON

Gene Symbol:MYOM1
Accession:XM_047437910
Location:INTRON

Gene Symbol:MYOM1
Accession:XM_047437911
Location:INTRON

Gene Symbol:MYOM1
Accession:XM_017026062
Location:INTRON

Gene Symbol:MYOM1
Accession:XM_047437909
Location:INTRON

Gene Symbol:MYOM1
Accession:NM_019856
Location:INTRON

Gene Symbol:MYOM1
Accession:XR_935071
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000824222 CLINVAR
dbSNP (RS) rs746487171 CLINVAR
MedGen C0007194 CLINVAR
NCBI Gene MYOM1 CLINVAR
OMIM 603508 CLINVAR