RGD:10767001 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:10767001 -  Homo sapiens

RGD ID: 10767001
RS ID: rs200386455
ClinVar ID: CV222757
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 48,586,293
GRCh38 18 51,059,923
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_318t1:c.955+7G>A
LRG_318:g.96884G>A
NG_013013.2:g.96884G>A
NC_000018.10:g.51059923G>A
More... 		12/31/2019 intron variant benign|likely benign 1-9 / 100 000 Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Polyposis familial of entire gastrointestinal tract; Polyposis juvenile intestinal; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMAD4
Accession:NM_001407042
Location:INTRON

Gene Symbol:SMAD4
Accession:NM_001407041
Location:INTRON

Gene Symbol:SMAD4
Accession:NM_005359
Location:INTRON

Gene Symbol:SMAD4
Accession:NM_001407043
Location:INTRON

Gene Symbol:SMAD4
Accession:NR_176264
Location:INTRON;NON-CODING

Gene Symbol:SMAD4
Accession:NR_176265
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000204004 CLINVAR
  RCV000582845 CLINVAR
  RCV000986033 CLINVAR
dbSNP (RS) rs200386455 CLINVAR
MedGen C0027672 CLINVAR
  C0345893 CLINVAR
  C3661900 CLINVAR
NCBI Gene SMAD4 CLINVAR
OMIM 174900 CLINVAR
  600993 CLINVAR
SNOMED CT 699346009 CLINVAR
  9273005 CLINVAR