RGD:11601418 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:11601418 -  Homo sapiens

RGD ID: 11601418
RS ID: rs563783609
ClinVar ID: CV314544
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MEN1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 64,571,534
GRCh38 11 64,804,062
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001370251.2:c.*272T>C
NM_001370260.2:c.*272T>C
NM_001370262.2:c.*272T>C
NM_001370263.2:c.*272T>C
More... 		01/13/2018 3 prime utr variant uncertain significance Endocrine adenomatosis multiple; MEA I; MEN 1; MEN I; Wermer syndrome
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_130803
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_130802
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_001370251
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_001407152
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_001407142
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_001407145
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_130799
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_001370262
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_001407149
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_001407147
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_001370260
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_001370263
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_001370261
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_001407143
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_001407151
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_001407150
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_130804
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:XM_017017766
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:XM_017017767
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_001407148
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_001407144
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_000244
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:XM_017017768
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_001407146
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_130801
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_130800
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NM_001370259
Location:3UTRS;EXON

Gene Symbol:MEN1
Accession:NR_176284
Location:EXON;NON-CODING

Gene Symbol:MEN1
Accession:NR_176286
Location:EXON;NON-CODING

Gene Symbol:MEN1
Accession:NR_176287
Location:EXON;NON-CODING

Gene Symbol:MEN1
Accession:NR_176285
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000282016 CLINVAR
  RCV000339408 CLINVAR
dbSNP (RS) rs563783609 CLINVAR
MedGen C0020502 CLINVAR
  C0025267 CLINVAR
NCBI Gene MEN1 CLINVAR
OMIM 131100 CLINVAR
  613733 CLINVAR
SNOMED CT 30664006 CLINVAR