RGD:15165592 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:15165592 -  Homo sapiens

RGD ID: 15165592
RS ID: rs758615963
ClinVar ID: CV759222
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYLK  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 123,451,734
GRCh38 3 123,732,887
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_053026.4:c.1309+800A>T
NM_053028.4:c.1309+800A>T
NM_053025.4:c.1516+9A>T
NM_053027.4:c.1516+9A>T
More... 		10/11/2018 intron variant likely benign AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MYLK
Accession:XM_024453534
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006471
Location:INTRON

Gene Symbol:MYLK
Accession:XM_011512861
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053027
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006469
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053026
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053031
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006473
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453537
Location:INTRON

Gene Symbol:MYLK
Accession:XM_011512860
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053025
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448183
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053032
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448187
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006472
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448186
Location:INTRON

Gene Symbol:MYLK
Accession:XM_024453532
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448182
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448188
Location:INTRON

Gene Symbol:MYLK
Accession:NM_053028
Location:INTRON

Gene Symbol:MYLK
Accession:XM_017006470
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448184
Location:INTRON

Gene Symbol:MYLK
Accession:XM_047448185
Location:INTRON

Gene Symbol:MYLK
Accession:NM_001321309
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002541539 CLINVAR
dbSNP (RS) rs758615963 CLINVAR
MedGen C3151077 CLINVAR
NCBI Gene MYLK CLINVAR
OMIM 600922 CLINVAR
  613780 CLINVAR