RGD:12834769 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:12834769 -  Homo sapiens

RGD ID: 12834769
RS ID: rs370359405
ClinVar ID: CV369749
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DBNL  PGAM2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 44,104,628
GRCh38 7 44,065,029
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001122956.2:c.*4113C>T
NM_001284313.2:c.*4113C>T
NM_001362723.2:c.*4113C>T
NM_014063.7:c.*4113C>T
More... 		12/05/2017 3 prime utr variant|intron variant likely benign AllHighlyPenetrant; Dimauro disease; Glycogen storage disease due to phosphoglycerate mutase deficiency; GSD X; Myopathy due to phosphoglycerate mutase deficiency; PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DBNL
Accession:NM_001122956
Location:3UTRS;EXON

Gene Symbol:DBNL
Accession:NM_001014436
Location:3UTRS;EXON

Gene Symbol:DBNL
Accession:NM_001284313
Location:3UTRS;EXON

Gene Symbol:DBNL
Accession:NM_001362723
Location:3UTRS;EXON

Gene Symbol:DBNL
Accession:NM_014063
Location:3UTRS;EXON

Gene Symbol:DBNL
Accession:NM_001284315
Location:3UTRS;EXON

Gene Symbol:PGAM2
Accession:NM_000290
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000420528 CLINVAR
  RCV002521744 CLINVAR
dbSNP (RS) rs370359405 CLINVAR
MedGen C0268149 CLINVAR
  CN169374 CLINVAR
NCBI Gene DBNL CLINVAR
  PGAM2 CLINVAR
OMIM 261670 CLINVAR
  610106 CLINVAR
  612931 CLINVAR
SNOMED CT 37666005 CLINVAR