RGD:28877433 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:28877433 -  Homo sapiens

RGD ID: 28877433
RS ID: rs2092263886
ClinVar ID: CV861530
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKD1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 2,154,644
GRCh38 16 2,104,643
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.10:g.2104643C>G
NM_001009944.3:c.8017-1G>C
NG_008617.1:g.38578G>C
NM_000296.3:c.8017-1G>C
More... 		02/05/2020 splice acceptor variant pathogenic Kidney, Polycystic; none provided; Polycystic kidney disease 1; POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; Polycystic kidney disease 1, severe; POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE I; Polycystic kidney dysplasia; Polycystic Kidney, Autosomal Dominant
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PKD1
Accession:NM_001009944
Location:INTRON

Gene Symbol:PKD1
Accession:XM_047434208
Location:INTRON

Gene Symbol:PKD1
Accession:XM_047434211
Location:INTRON

Gene Symbol:PKD1
Accession:XM_011522528
Location:INTRON

Gene Symbol:PKD1
Accession:XM_011522529
Location:INTRON

Gene Symbol:PKD1
Accession:NM_000296
Location:INTRON

Gene Symbol:PKD1
Accession:XM_011522537
Location:INTRON

Gene Symbol:PKD1
Accession:XM_047434209
Location:INTRON

Gene Symbol:PKD1
Accession:XM_047434212
Location:INTRON

Gene Symbol:PKD1
Accession:XM_047434213
Location:INTRON

Gene Symbol:PKD1
Accession:XM_047434210
Location:INTRON

Gene Symbol:PKD1
Accession:XM_005255370
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:22508176   PMID:25741868   PMID:26467025   PMID:33454723  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001095625 CLINVAR
  RCV001292361 CLINVAR
  RCV002473196 CLINVAR
dbSNP (RS) rs2092263886 CLINVAR
MedGen C0022680 CLINVAR
  C3149841 CLINVAR
  C3661900 CLINVAR
NCBI Gene PKD1 CLINVAR
OMIM 173900 CLINVAR
  601313 CLINVAR
SNOMED CT 28728008 CLINVAR