RGD:14745171 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:14745171 -  Homo sapiens

RGD ID: 14745171
RS ID: rs2157198
ClinVar ID: CV670638
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LARGE1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 33,733,940
GRCh38 22 33,337,954
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001378627.1:c.1132-153C>T
NM_001378628.1:c.1132-153C>T
NM_001378625.1:c.1132-153C>T
NM_001378626.1:c.1132-153C>T
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:LARGE1
Accession:NM_004737
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_024452302
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001362949
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441603
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441604
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378624
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378626
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378630
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001362953
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378627
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441599
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_024452303
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378629
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441606
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_133642
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378625
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_011530513
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441600
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001362951
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378628
Location:INTRON

Gene Symbol:LARGE1
Accession:NM_001378631
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441602
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441601
Location:INTRON

Gene Symbol:LARGE1
Accession:XM_047441605
Location:INTRON

Gene Symbol:LARGE1
Accession:XR_007067994
Location:INTRON;NON-CODING

Gene Symbol:LARGE1
Accession:XR_007067993
Location:INTRON;NON-CODING

Gene Symbol:LARGE1
Accession:XR_002958722
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000843202 CLINVAR
dbSNP (RS) rs2157198 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LARGE1 CLINVAR
OMIM 603590 CLINVAR