rs368387130 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: rs368387130 -  Homo sapiens

RGD ID: 152060366
RS ID: rs368387130
ClinVar ID: CV1650570
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYH2  MYHAS  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 10,447,464
GRCh38 17 10,544,147
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001100112.2:c.506-20G>C
NM_017534.6:c.506-20G>C
NG_013014.1:g.10554G>C
NC_000017.11:g.10544147C>G
More... 		12/11/2023 intron variant likely benign CONGENITAL MYOPATHY 6 WITH OPHTHALMOPLEGIA; Inclusion body myopathy 3; INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT; Inclusion body myopathy autosomal dominant; Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MYH2
Accession:NM_017534
Location:INTRON

Gene Symbol:MYH2
Accession:NM_001100112
Location:INTRON

Gene Symbol:MYHAS
Accession:NR_125367
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002128268 CLINVAR
dbSNP (RS) rs368387130 CLINVAR
MedGen C1854106 CLINVAR
NCBI Gene MYH2 CLINVAR
  MYHAS CLINVAR
OMIM 160740 CLINVAR
  605637 CLINVAR