RGD:12885479 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:12885479 -  Homo sapiens

RGD ID: 12885479
RS ID: rs149400412
ClinVar ID: CV390961
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDC73  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 193,119,478
GRCh38 1 193,150,348
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_507t1:c.873C>T
LRG_507:g.33391C>T
NG_012691.1:g.33391C>T
NC_000001.11:g.193150348C>T
More... 		12/02/2020 synonymous variant benign|likely benign adult <1 / 1 000 000 Cancer predisposition; CDC73-Related Parathyroid Carcinoma; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Hyperparathyroidism 2; Hyperparathyroidism 2 with jaw tumors; HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY; HYPERPARATHYROIDISM, FAMILIAL PRIMARY, WITH MULTIPLE OSSIFYING JAW FIBROMAS; HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY; Neoplastic Syndromes, Hereditary; Parathyroid cancer; Parathyroid carcinoma; Parathyroid gland carcinoma; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CDC73
Accession:NM_024529
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 291
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADVLSVLRQYNIQKKEIVVKGDEVIFGEFSWPKNVKTNYVVWGTGKEGQPREYYTLDSILFLLNNVHLSHPVYVRRAAT
ENIPVVRRPDRKDLLGYLNGEASTSASIDRSAPLEIGLQRSTQVKRAADEVLAEAKKPRIEDEECVRLDKERLAARLEGH
KEGIVQTEQIRSLSEAMSVEKIAAIKAKIMAKKRSTIKTDLDDDITALKQRSFVDAEVDVTRDIVSRERVWRTRTTILQS
TGKNFSKNIFAILQSVKAREEGRAPEQRPAPNAAPVDPTLRTKQPIPAAYNRYDQERFKGKEETEGFKIDTMGTYHGMTL
KSVTEGASARKTQTPAAQPVPRPVSQARPPPNQKKGSRTPIIIIPAATTSLITMLNAKDLLQDLKFVPSDEKKKQGCQRE
NETLIQRRKDQMQPGGTAISVTVPYRVVDQPLKLMPQDWDRVVAVFVQGPAWQFKGWPWLLPDGSPVDIFAKIKAFHLKY
DEVRLDPNVQKWDVTVLELSYHKRHLDRPVFLRFWETLDRYMVKHKSHLRF*

Gene Symbol:CDC73
Accession:XM_006711537
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 291
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADVLSVLRQYNIQKKEIVVKGDEVIFGEFSWPKNVKTNYVVWGTGKEGQPREYYTLDSILFLLNNVHLSHPVYVRRAAT
ENIPVVRRPDRKDLLGYLNGEASTSASIDRSAPLEIGLQRSTQVKRAADEVLAEAKKPRIEDEECVRLDKERLAARLEGH
KEGIVQTEQIRSLSEAMSVEKIAAIKAKIMAKKRSTIKTDLDDDITALKQRSFVDAEVDVTRDIVSRERVWRTRTTILQS
TGKNFSKNIFAILQSVKAREEGRAPEQRPAPNAAPVDPTLRTKQPIPAAYNRYDQERFKGKEETEGFKIDTMGTYHGMTL
KSVTVFFLMDVSFSVVLLVFPASHVPL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000465423 CLINVAR
  RCV001018259 CLINVAR
  RCV002496793 CLINVAR
dbSNP (RS) rs149400412 CLINVAR
MedGen C0027672 CLINVAR
  C0687150 CLINVAR
  C1840402 CLINVAR
NCBI Gene CDC73 CLINVAR
OMIM 145000 CLINVAR
  145001 CLINVAR
  607393 CLINVAR
  608266 CLINVAR
SNOMED CT 255037004 CLINVAR
  699346009 CLINVAR