RGD:38487409 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:38487409 -  Homo sapiens

RGD ID: 38487409
RS ID: rs1889569618
ClinVar ID: CV940302
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FANCM  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 45,658,003
GRCh38 14 45,188,800
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_502t1:c.4780-2A>G
NM_001308133.2:c.4702-2A>G
NM_020937.4:c.4780-2A>G
LRG_502:g.57868A>G
More... 		05/23/2019 splice acceptor variant likely pathogenic Fanconi pancytopenia; Fanconi's anemia
Disease Annotations     Click to see Annotation Detail View
Fanconi anemia  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:FANCM
Accession:NM_020937
Location:INTRON

Gene Symbol:FANCM
Accession:XM_011537034
Location:INTRON

Gene Symbol:FANCM
Accession:XM_011537035
Location:INTRON

Gene Symbol:FANCM
Accession:XM_011537037
Location:INTRON

Gene Symbol:FANCM
Accession:NM_001308133
Location:INTRON

Gene Symbol:FANCM
Accession:NM_001308134
Location:INTRON

Gene Symbol:FANCM
Accession:XM_017021523
Location:INTRON

Gene Symbol:FANCM
Accession:XM_047431632
Location:INTRON

Gene Symbol:FANCM
Accession:XM_047431631
Location:INTRON

Gene Symbol:FANCM
Accession:XM_047431633
Location:INTRON

Gene Symbol:FANCM
Accession:XM_047431634
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:28492532   PMID:29895858   PMID:30075111  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001209303 CLINVAR
dbSNP (RS) rs1889569618 CLINVAR
MedGen C0015625 CLINVAR
NCBI Gene FANCM CLINVAR
OMIM 227650 CLINVAR
  609644 CLINVAR
SNOMED CT 30575002 CLINVAR