RGD:34888494 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:34888494 -  Homo sapiens

RGD ID: 34888494
RS ID: rs2047747647
ClinVar ID: CV917752
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OFD1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 13,775,457
GRCh38 X 13,757,338
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003611.3:c.1412-322G>A
NG_008872.1:g.27626G>A
NC_000023.11:g.13757338G>A
NM_001330210.2:c.992-322G>A
More... 		01/29/2020 intron variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OFD1
Accession:XM_047442594
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442588
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442583
Location:INTRON

Gene Symbol:OFD1
Accession:NM_001330209
Location:INTRON

Gene Symbol:OFD1
Accession:XM_011545598
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442589
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442597
Location:INTRON

Gene Symbol:OFD1
Accession:XM_017029911
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442591
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442590
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442592
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442587
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442584
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442586
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442593
Location:INTRON

Gene Symbol:OFD1
Accession:NM_001330210
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442595
Location:INTRON

Gene Symbol:OFD1
Accession:XM_017029909
Location:INTRON

Gene Symbol:OFD1
Accession:NM_003611
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442585
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442596
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:33847015  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001194622 CLINVAR
dbSNP (RS) rs2047747647 CLINVAR
MedGen C1846175 CLINVAR
NCBI Gene OFD1 CLINVAR
OMIM 300170 CLINVAR
  300209 CLINVAR