RGD:13482057 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:13482057 -  Homo sapiens

RGD ID: 13482057
RS ID: rs747659617
ClinVar ID: CV458214
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127816054  LRSAM1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 130,251,722
GRCh38 9 127,489,443
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_373t1:c.1348-1G>A
NM_138361.5:c.1348-1G>A
LRG_373:g.42958G>A
NG_032008.1:g.42958G>A
More... 		07/19/2019 splice acceptor variant likely pathogenic|uncertain significance Charcot-Marie-Tooth disease type 2P; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G; Charcot-Marie-Tooth Neuropathy Type 2G; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2P; CMT 2G
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LRSAM1
Accession:NM_001384144
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_138361
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_001005374
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_001005373
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_001190723
Location:INTRON

Gene Symbol:LRSAM1
Accession:XM_047424058
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_001384143
Location:INTRON

Gene Symbol:LRSAM1
Accession:NM_001384142
Location:INTRON

Gene Symbol:LRSAM1
Accession:XM_047424059
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:16199547   PMID:20865121   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000551707 CLINVAR
dbSNP (RS) rs747659617 CLINVAR
MedGen C3280797 CLINVAR
NCBI Gene LRSAM1 CLINVAR
OMIM 608591 CLINVAR
  610933 CLINVAR
  614436 CLINVAR