RGD:11630332 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:11630332 -  Homo sapiens

RGD ID: 11630332
RS ID: rs183327883
ClinVar ID: CV350277
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYH14  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 50,783,475
GRCh38 19 50,280,218
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011645.1:g.81591C>T
NC_000019.10:g.50280218C>T
NC_000019.9:g.50783475C>T
NM_024729.4:c.4015-13C>T
More... 		11/22/2021 intron variant benign|likely benign Deafness, autosomal dominant 4; Deafness, autosomal dominant 4A; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MYH14
Accession:NM_024729
Location:INTRON

Gene Symbol:MYH14
Accession:NM_001145809
Location:INTRON

Gene Symbol:MYH14
Accession:NM_001077186
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000347452 CLINVAR
  RCV001571805 CLINVAR
dbSNP (RS) rs183327883 CLINVAR
MedGen C1833503 CLINVAR
  C3661900 CLINVAR
NCBI Gene MYH14 CLINVAR
OMIM 600652 CLINVAR
  608568 CLINVAR