RGD:11589499 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:11589499 -  Homo sapiens

RGD ID: 11589499
RS ID: rs757782326
ClinVar ID: CV291440
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCD2  LOC107303338  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 10,106,033
GRCh38 3 10,064,349
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_306:g.42921C>T
NG_007311.1:g.42921C>T
NC_000003.12:g.10064349C>T
NC_000003.11:g.10106033C>T
More... 		11/06/2023 intron variant likely benign|uncertain significance FANCONI ANEMIA, COMPLEMENTATION GROUP D; Fanconi pancytopenia; FANCONI PANCYTOPENIA, TYPE 4; Fanconi's anemia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FANCD2
Accession:NM_033084
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_001374255
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_001018115
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_001374253
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_001319984
Location:INTRON

Gene Symbol:FANCD2
Accession:NM_001374254
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000311244 CLINVAR
  RCV003522960 CLINVAR
dbSNP (RS) rs757782326 CLINVAR
MedGen C0015625 CLINVAR
  C3160738 CLINVAR
NCBI Gene 107303338 CLINVAR
  FANCD2 CLINVAR
OMIM 227646 CLINVAR
  227650 CLINVAR
  613984 CLINVAR
SNOMED CT 30575002 CLINVAR