RGD:34889590 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:34889590 -  Homo sapiens

RGD ID: 34889590
RS ID: rs1835521444
ClinVar ID: CV905623
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRSAM1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 130,243,442
GRCh38 9 127,481,163
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.127481163T>C
NC_000009.11:g.130243442T>C
NM_001384142.1:c.1044-20T>C
NM_001384143.1:c.1044-20T>C
More... 		intron variant likely benign Charcot-Marie-Tooth Neuropathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LRSAM1
Accession:NM_001005374
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_001384143
Location:INTRON

Gene Symbol:LRSAM1
Accession:XM_047424059
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_001005373
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_001384142
Location:INTRON

Gene Symbol:LRSAM1
Accession:XM_047424058
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_001384144
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_001190723
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_138361
Location:INTRON

Gene Symbol:LRSAM1
Accession:NR_168891
Location:INTRON;NON-CODING

Gene Symbol:LRSAM1
Accession:NR_168892
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001172646 CLINVAR
dbSNP (RS) rs1835521444 CLINVAR
MedGen C0007959 CLINVAR
NCBI Gene LRSAM1 CLINVAR
OMIM 610933 CLINVAR
SNOMED CT 50548001 CLINVAR