RGD:8659930 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:8659930 -  Homo sapiens

RGD ID: 8659930
RS ID: rs4740413
ClinVar ID: CV134913
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMC3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 133,963,101
GRCh38 9 131,087,714
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_029800.1:g.83598A>G
NC_000009.12:g.131087714A>G
NC_000009.11:g.133963101A>G
NM_006059.4:c.4378-4A>G
More... 		12/19/2021 intron|intron variant benign|likely benign AllHighlyPenetrant; Cortical malformations, occipital; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LAMC3
Accession:XM_011518121
Location:INTRON

Gene Symbol:LAMC3
Accession:NM_006059
Location:INTRON

Gene Symbol:LAMC3
Accession:XM_006716921
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000117474 CLINVAR
  RCV000609861 CLINVAR
  RCV001682815 CLINVAR
dbSNP (RS) rs4740413 CLINVAR
MedGen C3279875 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene LAMC3 CLINVAR
OMIM 604349 CLINVAR
  614115 CLINVAR