RGD:11544622 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:11544622 -  Homo sapiens

RGD ID: 11544622
RS ID: rs3826803
ClinVar ID: CV256744
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNM2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 10,883,126
GRCh38 19 10,772,450
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008792.1:g.59372C>G
NC_000019.10:g.10772450C>G
NC_000019.9:g.10883126C>G
LRG_238t1:c.236-29C>G
More... 		07/30/2021 intron variant benign AllHighlyPenetrant; Charcot-Marie-Tooth disease dominant intermediate 1; Charcot-Marie-Tooth disease dominant intermediate I; CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B; CMT DI1; Lethal congenital contracture syndrome 5; Myopathy, centronuclear, 1; Myopathy, centronuclear, 3; MYOPATHY, CENTRONUCLEAR, LETHAL, AUTOSOMAL RECESSIVE; MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT; none provided

Variant Details
Variant Transcripts
Gene Symbol:DNM2
Accession:NM_001190716
Location:INTRON

Gene Symbol:DNM2
Accession:NM_004945
Location:INTRON

Gene Symbol:DNM2
Accession:NM_001005361
Location:INTRON

Gene Symbol:DNM2
Accession:NM_001005360
Location:INTRON

Gene Symbol:DNM2
Accession:NM_001005362
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000244035 CLINVAR
  RCV001658185 CLINVAR
  RCV001658186 CLINVAR
  RCV001658187 CLINVAR
  RCV001711665 CLINVAR
dbSNP (RS) rs3826803 CLINVAR
MedGen C1847902 CLINVAR
  C3661900 CLINVAR
  C4551952 CLINVAR
  C4706410 CLINVAR
  CN169374 CLINVAR
NCBI Gene DNM2 CLINVAR
OMIM 160150 CLINVAR
  602378 CLINVAR
  606482 CLINVAR
  615368 CLINVAR