RGD:11652886 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:11652886 -  Homo sapiens

RGD ID: 11652886
RS ID: rs886063906
ClinVar ID: CV319129
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPM2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 35,689,906
GRCh38 9 35,689,909
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_680t1:c.-92C>T
LRG_680t2:c.-92C>T
NM_213674.1:c.-92C>T
LRG_680:g.5149C>T
More... 		01/13/2018 5 prime utr variant uncertain significance neonatal/infancy 1-9 / 100 000 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I; Cap myopathy 2; Nemaline myopathy 4; Nemaline myopathy caused by mutation in the tropomyosin 2 gene
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TPM2
Accession:NM_003289
Location:5UTRS;EXON

Gene Symbol:TPM2
Accession:NM_001301226
Location:5UTRS;EXON

Gene Symbol:TPM2
Accession:XM_047423827
Location:5UTRS;EXON

Gene Symbol:TPM2
Accession:NM_001301227
Location:5UTRS;EXON

Gene Symbol:TPM2
Accession:NM_213674
Location:5UTRS;EXON

Gene Symbol:TPM2
Accession:XM_017015088
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000307813 CLINVAR
  RCV000399986 CLINVAR
dbSNP (RS) rs886063906 CLINVAR
MedGen C0220662 CLINVAR
  C1836447 CLINVAR
NCBI Gene TPM2 CLINVAR
OMIM 108120 CLINVAR
  190990 CLINVAR
  609285 CLINVAR