RGD:12894517 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:12894517 -  Homo sapiens

RGD ID: 12894517
RS ID: rs751567476
ClinVar ID: CV407483
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NBN  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 90,990,553
GRCh38 8 89,978,325
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_158t1:c.481-2A>G
LRG_158:g.11347A>G
NG_008860.1:g.11347A>G
NC_000008.11:g.89978325T>C
More... 		09/25/2023 splice acceptor variant pathogenic|likely pathogenic Ataxia telangiectasia variant V1; Berlin Breakage syndrome; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Immunodeficiency, microcephaly with normal intelligence; IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY; Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies; Neoplastic Syndromes, Hereditary; Nijmegen breakage syndrome; none provided; Nonsyndromal microcephaly autosomal recessive with normal intelligence; Seemanova syndrome 2; SEEMANOVA SYNDROME II; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NBN
Accession:XM_047421795
Location:5UTRS;INTRON

Gene Symbol:NBN
Accession:NM_002485
Location:INTRON

Gene Symbol:NBN
Accession:XM_011517045
Location:INTRON

Gene Symbol:NBN
Accession:XM_024447163
Location:INTRON

Gene Symbol:NBN
Accession:XM_047421796
Location:INTRON

Gene Symbol:NBN
Accession:NM_001024688
Location:INTRON

Gene Symbol:NBN
Accession:XM_011517046
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26315354   PMID:28492532   PMID:32832836  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000483114 CLINVAR
  RCV001184207 CLINVAR
  RCV002525921 CLINVAR
dbSNP (RS) rs751567476 CLINVAR
MedGen C0027672 CLINVAR
  C0398791 CLINVAR
  C3661900 CLINVAR
NCBI Gene NBN CLINVAR
OMIM 251260 CLINVAR
  602667 CLINVAR
SNOMED CT 234638009 CLINVAR
  699346009 CLINVAR