RGD:13789127 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:13789127 -  Homo sapiens

RGD ID: 13789127
RS ID: rs1553615846
ClinVar ID: CV541554
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEB  RIF1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 152,370,092
GRCh38 2 151,513,578
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001271208.1:c.23346+2T>A
LRG_202t1:c.23346+2T>A
NC_000002.11:g.152370092A>T
LRG_202:g.225910T>A
More... 		02/28/2017 splice donor variant likely pathogenic Nemaline myopathy 2, autosomal recessive; Nemaline myopathy caused by mutation in the nebulin gene
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NEB
Accession:XM_005246617
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246615
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444870
Location:INTRON

Gene Symbol:NEB
Accession:XM_047444484
Location:INTRON

Gene Symbol:RIF1
Accession:NM_001177665
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246602
Location:INTRON

Gene Symbol:RIF1
Accession:NM_001177664
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444886
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246599
Location:INTRON

Gene Symbol:NEB
Accession:XM_006712542
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444883
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246598
Location:INTRON

Gene Symbol:RIF1
Accession:XM_017004423
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444882
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246613
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246601
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246590
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444875
Location:INTRON

Gene Symbol:NEB
Accession:NM_004543
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246591
Location:INTRON

Gene Symbol:NEB
Accession:XM_047444483
Location:INTRON

Gene Symbol:RIF1
Accession:XM_005246665
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444887
Location:INTRON

Gene Symbol:NEB
Accession:NM_001164507
Location:INTRON

Gene Symbol:NEB
Accession:XM_017004183
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444872
Location:INTRON

Gene Symbol:RIF1
Accession:NM_018151
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246610
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246616
Location:INTRON

Gene Symbol:NEB
Accession:XM_017004177
Location:INTRON

Gene Symbol:NEB
Accession:XM_017004181
Location:INTRON

Gene Symbol:NEB
Accession:XM_017004184
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444873
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444885
Location:INTRON

Gene Symbol:NEB
Accession:XM_047444485
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444878
Location:INTRON

Gene Symbol:NEB
Accession:XM_047444481
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246592
Location:INTRON

Gene Symbol:NEB
Accession:XM_011511225
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444881
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246608
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246596
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444884
Location:INTRON

Gene Symbol:NEB
Accession:NM_001164508
Location:INTRON

Gene Symbol:NEB
Accession:XM_047444477
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246612
Location:INTRON

Gene Symbol:NEB
Accession:XM_017004180
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444868
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444880
Location:INTRON

Gene Symbol:RIF1
Accession:NM_001177663
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246594
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246606
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246597
Location:INTRON

Gene Symbol:NEB
Accession:XM_017004185
Location:INTRON

Gene Symbol:NEB
Accession:XM_017004179
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444871
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246593
Location:INTRON

Gene Symbol:NEB
Accession:XM_017004178
Location:INTRON

Gene Symbol:NEB
Accession:XM_047444479
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444879
Location:INTRON

Gene Symbol:NEB
Accession:XM_011511226
Location:INTRON

Gene Symbol:RIF1
Accession:XM_017004422
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444876
Location:INTRON

Gene Symbol:NEB
Accession:XM_006712541
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444869
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444877
Location:INTRON

Gene Symbol:NEB
Accession:XM_047444482
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246611
Location:INTRON

Gene Symbol:NEB
Accession:XM_011511227
Location:INTRON

Gene Symbol:NEB
Accession:XM_017004182
Location:INTRON

Gene Symbol:RIF1
Accession:XM_017004424
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444874
Location:INTRON

Gene Symbol:NEB
Accession:XM_047444478
Location:INTRON

Gene Symbol:NEB
Accession:NM_001271208
Location:INTRON

Gene Symbol:NEB
Accession:XM_005246604
Location:INTRON

Gene Symbol:RIF1
Accession:XM_047444867
Location:INTRON

Gene Symbol:RIF1
Accession:XR_007077532
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077546
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077534
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077530
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077544
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077537
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077542
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077540
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077541
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077533
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077543
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077531
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077545
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077529
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077547
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077535
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077539
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077538
Location:INTRON;NON-CODING

Gene Symbol:RIF1
Accession:XR_007077536
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000665797 CLINVAR
dbSNP (RS) rs1553615846 CLINVAR
MedGen C1850569 CLINVAR
NCBI Gene NEB CLINVAR
  RIF1 CLINVAR
OMIM 161650 CLINVAR
  256030 CLINVAR
  608952 CLINVAR