rs1591719208 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 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
Advanced Search (OLGA)

Variant: rs1591719208 -  Homo sapiens

RGD ID: 25327856
RS ID: rs1591719208
ClinVar ID: CV811100
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: MRE11  
Reference Nucleotide: -
Variant Nucleotide: ATGTA
Position
Assembly Chr Position
GRCh37 11 94,219,185
GRCh38 11 94,486,019
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_85t1:c.215_219dup
NM_001330347.2:c.215_219dup
NM_005590.4:c.215_219dup
NM_005591.4:c.215_219dup
More... 		11/29/2018 frameshift variant pathogenic Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV811100HumanHereditary Neoplastic Syndromes  IAGP 8554872ClinVar Annotator: match by term: Hereditary cancer-predisposing syndromeClinVar 


.


Database
Acc Id
Source(s)
ClinVar RCV001014602 CLINVAR
dbSNP (RS) rs1591719208 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene MRE11 CLINVAR
OMIM 600814 CLINVAR
SNOMED CT 699346009 CLINVAR