RGD:8613399 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:8613399 -  Homo sapiens

RGD ID: 8613399
RS ID: rs81002827
ClinVar ID: CV67119
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BRCA2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 32,936,842
GRCh38 13 32,362,705
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_293t1:c.7976+12G>A
LRG_293:g.52226G>A
NG_012772.3:g.52226G>A
NC_000013.11:g.32362705G>A
More... 		05/28/2019 intron|intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided all ages|variable 1-5 / 10 000|1-9 / 100 000|http://www.ncbi.nlm.nih.gov/books/nbk1247/ AllHighlyPenetrant; Breast and ovarian cancer; Breast-ovarian cancer, familial 2; Cancer breast; Cancer predisposition; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer syndrome (HBOC); Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Malignant breast neoplasm; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:BRCA2
Accession:NM_001406722
Location:INTRON

Gene Symbol:BRCA2
Accession:NM_001406719
Location:INTRON

Gene Symbol:BRCA2
Accession:NM_000059
Location:INTRON

Gene Symbol:BRCA2
Accession:NM_001406721
Location:INTRON

Gene Symbol:BRCA2
Accession:NM_001406720
Location:INTRON

Gene Symbol:BRCA2
Accession:NR_176251
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9971877   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000045362 CLINVAR
  RCV000113847 CLINVAR
  RCV000129688 CLINVAR
  RCV000195308 CLINVAR
  RCV000293235 CLINVAR
  RCV001353771 CLINVAR
  RCV003492368 CLINVAR
dbSNP (RS) rs81002827 CLINVAR
MedGen C0006142 CLINVAR
  C0027672 CLINVAR
  C0677776 CLINVAR
  C1838457 CLINVAR
  C2675520 CLINVAR
  CN169374 CLINVAR
  CN221562 CLINVAR
NCBI Gene BRCA2 CLINVAR
OMIM 600185 CLINVAR
  605724 CLINVAR
  612555 CLINVAR
SNOMED CT 254837009 CLINVAR
  699346009 CLINVAR