RGD:28907946 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:28907946 -  Homo sapiens

RGD ID: 28907946
RS ID: rs200580615
ClinVar ID: CV900443
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAAF11  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 133,673,693
GRCh38 8 132,661,447
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001321963.2:c.-183+13A>G
NM_001321964.2:c.-183+13A>G
NM_001321966.2:c.-183+13A>G
NM_001321965.2:c.-496+13A>G
More... 		03/26/2021 intron variant conflicting interpretations of pathogenicity|uncertain significance CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DNAAF11
Accession:NM_001321965
Location:5UTRS;INTRON

Gene Symbol:DNAAF11
Accession:NM_001321963
Location:5UTRS;INTRON

Gene Symbol:DNAAF11
Accession:XM_047421660
Location:5UTRS;INTRON

Gene Symbol:DNAAF11
Accession:NM_001321966
Location:5UTRS;INTRON

Gene Symbol:DNAAF11
Accession:NM_001321964
Location:5UTRS;INTRON

Gene Symbol:DNAAF11
Accession:XM_011516950
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_047421657
Location:INTRON

Gene Symbol:DNAAF11
Accession:NM_012472
Location:INTRON

Gene Symbol:DNAAF11
Accession:NM_001321962
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_017013296
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_047421658
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_047421656
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_006716538
Location:INTRON

Gene Symbol:DNAAF11
Accession:NM_001321961
Location:INTRON

Gene Symbol:DNAAF11
Accession:XM_047421659
Location:INTRON

Gene Symbol:DNAAF11
Accession:NR_135913
Location:INTRON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135911
Location:INTRON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135908
Location:INTRON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135906
Location:INTRON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135912
Location:INTRON;NON-CODING

Gene Symbol:DNAAF11
Accession:XR_007060728
Location:INTRON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135907
Location:INTRON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_073525
Location:INTRON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135905
Location:INTRON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135910
Location:INTRON;NON-CODING

Gene Symbol:DNAAF11
Accession:NR_135909
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001159822 CLINVAR
dbSNP (RS) rs200580615 CLINVAR
MedGen C3543826 CLINVAR
NCBI Gene LRRC6 CLINVAR
OMIM 614930 CLINVAR
  614935 CLINVAR