RGD:13462891 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:13462891 -  Homo sapiens

RGD ID: 13462891
RS ID: rs34745784
ClinVar ID: CV438655
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARV1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 231,114,945
GRCh38 1 230,979,199
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_073623.1:p.Tyr32His
NG_052022.1:g.5151T>C
NC_000001.11:g.230979199T>C
NR_144538.2:n.106T>C
More... 		11/15/2018 missense variant benign|likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ARV1
Accession:NM_001346992
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNGGRSGLQQGKGNVDGVAATPTAASASCQHRCIECNQEAKELYRDYNHGVLKITICKSCQKPVDKYIEYDPVIILINA
ILCKAQAYRHILFNTQINIHGKLCIFCLLCEAYLRWWQLQDSNQNTAPDDLIRYAKEWDFYRMFAIAALGWSAVAQSQLT
AALNSWAQAILLPRPPQVAGTTEQTAYFIGIFTFLWVERPMTAKKKPNFILLLKALLLSSYGKLLLIPAVIWEHDYTSVC
LKLIKVFVLTSNFQAIRVTLNINRKLSFLAVLSGLLLESIMVYFFQSMEWDVGSDYAIFKSQDF*

Gene Symbol:ARV1
Accession:NM_022786
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNGGRSGLQQGKGNVDGVAATPTAASASCQHRCIECNQEAKELYRDYNHGVLKITICKSCQKPVDKYIEYDPVIILINA
ILCKAQAYRHILFNTQINIHGKLCIFCLLCEAYLRWWQLQDSNQNTAPDDLIRYAKEWDFYRMFAIAALEQTAYFIGIFT
FLWVERPMTAKKKPNFILLLKALLLSSYGKLLLIPAVIWEHDYTSVCLKLIKVFVLTSNFQAIRVTLNINRKLSFLAVLS
GLLLESIMVYFFQSMEWDVGSDYAIFKSQDF*

Gene Symbol:ARV1
Accession:XM_024449202
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNGGRSGLQQGKGNVDGVAATPTAASASCQHRCIECNQEAKELYRDYNHGVLKITICKSCQKPVDKYIEYDPVIILINA
ILCKAQAYRHILFNTQINIHGKLCIFCLLCEAYLRWWQLQDSNQNTAPDDLIRYAKEWDFYRMFAIAALDRVSLCCLGWS
AVAQSQLTAALNSWAQAILLPRPPQVAGTTEQTAYFIGIFTFLWVERPMTAKKKPNFILLLKALLLSSYGKLLLIPAVIW
EHDYTSVCLKLIKVFVLTSNFQAIRVTLNINRKLSFLAVLSGLLLESIMVYFFQSMEWDVGSDYAIFKSQDF*

Gene Symbol:ARV1
Accession:NR_144538
Location:EXON;NON-CODING

Gene Symbol:ARV1
Accession:XR_002957381
Location:EXON;NON-CODING

Gene Symbol:ARV1
Accession:XR_007063028
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000515018 CLINVAR
dbSNP (RS) rs34745784 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ARV1 CLINVAR
  LOC129932761 CLINVAR
OMIM 611647 CLINVAR