RGD:156027297 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:156027297 -  Homo sapiens

RGD ID: 156027297
ClinVar ID: CV2078207
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCC  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 97,933,350
GRCh38 9 95,171,068
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000136.3:c.521+11A>C
NM_001243743.2:c.521+11A>C
NM_001243744.2:c.521+11A>C
LRG_497:g.151642A>C
More... 		08/30/2022 intron variant likely benign Fanconi pancytopenia; Fanconi's anemia
Disease Annotations     Click to see Annotation Detail View
Fanconi anemia  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:FANCC
Accession:NM_000136
Location:INTRON

Gene Symbol:FANCC
Accession:XM_005251802
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422949
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422953
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422955
Location:INTRON

Gene Symbol:FANCC
Accession:NM_001243744
Location:INTRON

Gene Symbol:FANCC
Accession:NM_001243743
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422957
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422952
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422951
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422958
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422959
Location:INTRON

Gene Symbol:FANCC
Accession:XM_011518365
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422948
Location:INTRON

Gene Symbol:FANCC
Accession:XM_006717001
Location:INTRON

Gene Symbol:FANCC
Accession:XM_011518366
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422950
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422956
Location:INTRON

Gene Symbol:FANCC
Accession:XM_024447451
Location:INTRON

Gene Symbol:FANCC
Accession:XM_006717002
Location:INTRON

Gene Symbol:FANCC
Accession:XM_006717004
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422954
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002866896 CLINVAR
MedGen C0015625 CLINVAR
NCBI Gene FANCC CLINVAR
OMIM 227650 CLINVAR
  613899 CLINVAR
SNOMED CT 30575002 CLINVAR