rs1580 Rat Genome Database
Welcome
Sign In
Message Center
1 Messages
Go to Message Center
Watched Genes
Watched Ontology Terms
×
Save List to My RGD
Create Name:
Description:
You must be logged in to use this feature
Subscribe to Updates
Select categories you would like to watch. Updates to this gene will be sent to Sign In
Analyze List
×
Gene Annotator (Functional Annotation)
unavailable
Gene Annotator (Annotation Distribution)
unavailable
Variant Visualizer (Genomic Variants)
unavailable
InterViewer (Protein-Protein Interactions)
unavailable
Gviewer (Genome Viewer)
unavailable
Variant Visualizer (Damaging Variants)
unavailable
Gene Annotator (Annotation Comparison)
unavailable
OLGA (Gene List Generator)
unavailable
Excel (Download)
MOET (Multi-Ontology Enrichement)
unavailable
GOLF (Gene-Ortholog Location Finder)
unavailable
x
Send Message
x
Send us a Message
Your email
Message
Send
Submit Data
|
Help
|
Video Tutorials
|
News
|
Publications
|
Download
|
REST API
|
Citing RGD
|
Contact
Home
Search RGD
Grant Resources
Citing RGD
About Us
Contact Us
Data
Genes
Variants
Community Projects
QTLs
Strains
Markers
Genome Information
Ontologies
Cell Lines
References
Download
Submit Data
Analysis & Visualization
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)
Diseases
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
Phenotypes & Models
Find Models
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
Community
Rat Community Forum
Directory of Rat Laboratories
Video Tutorials
News
RGD Publications
RGD Presentations Archive
Nomenclature Guidelines
Resource Links
Laboratory Resources
Employment Resources
Advanced Search (OLGA)
Summary
Annotation
ClinVar Data
Imported Disease - ClinVar
Variant Details
Variant Transcripts
Variant Samples
Additional Information
External Database Links
Variant: rs1580 - Homo sapiens
RGD ID:
11597172
RS ID:
rs1580
ClinVar ID:
CV298071
Genic Status:
GENIC
Type:
SNV
(SO:0001483)
Associated Genes:
PDE8B
Reference Nucleotide:
T
Variant Nucleotide:
A
Position
Assembly
Chr
Position
GRCh37
5
76,723,969
GRCh38
5
77,428,144
JBrowse:
View Region in Genome Browser (JBrowse)
Model
Annotation
Click to see Annotation Summary View
ClinVar Data
HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000005.10:g.77428144T>A
NC_000005.9:g.76723969T>A
NG_023364.2:g.252893T>A
NM_003719.3:c.*1590T>A
NM_001029851.4:c.*1590T>A
NM_001029852.4:c.*1590T>A
NM_001029853.4:c.*1590T>A
NM_001029854.4:c.*1590T>A
NM_001349748.3:c.*1590T>A
NM_001349752.3:c.*1590T>A
NM_001349753.2:c.*1590T>A
NM_001376063.1:c.*1590T>A
NM_001376064.1:c.*1590T>A
NM_001376065.1:c.*1590T>A
NM_001376066.1:c.*1590T>A
NM_001376067.1:c.*1590T>A
NM_001376071.1:c.*1590T>A
NM_001376068.1:c.*1590T>A
NM_001376069.1:c.*1590T>A
NM_001376070.1:c.*1590T>A
NM_001376073.1:c.*1590T>A
NM_001376075.1:c.*1590T>A
NM_003719.5:c.*1590T>A
NM_001349751.3:c.*1676T>A
NM_001376072.1:c.*1676T>A
NM_001376074.1:c.*1590T>A
NM_001376062.1:c.*1590T>A
NM_001349749.3:c.*1590T>A
NM_001349750.3:c.*1590T>A
More...
01/13/2018
3 prime utr variant
benign|likely benign
Striatal degeneration, autosomal dominant 1
Imported Disease Annotations - ClinVar
1 to 1 of 1 rows
10
20
30
40
100
All Rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV298071
Human
Striatal Degeneration, Autosomal Dominant 1
IAGP
8554872
ClinVar Annotator: match by term: Striatal degeneration and autosomal dominant 1
ClinVar
1 to 1 of 1 rows
10
20
30
40
100
All Rows
Disease Annotations
Click to see Annotation Summary View
1 to 1 of 1 rows
10
20
30
40
100
All Rows
Striatal Degeneration, Autosomal Dominant 1
(IAGP)
1 to 1 of 1 rows
10
20
30
40
100
All Rows
Variant Details
Variant Transcripts
Gene Symbol:
PDE8B
Accession:
NM_001349752
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001376066
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001414622
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001376073
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001376071
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001349749
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001376062
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_003719
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001349753
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001349751
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001376067
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001029852
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001029854
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001349748
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001376069
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001376072
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001029853
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001376063
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001376074
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001376065
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001376064
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001029851
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001349750
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001376070
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001376075
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001376068
Location:
3UTRS;EXON
Gene Symbol:
PDE8B
Accession:
NM_001414623
Location:
3UTRS;EXON
.
Variant Samples
1 to 1 of 1 rows
10
20
30
40
100
All Rows
ClinVar GRCh37
ClinVar GRCh38
1 to 1 of 1 rows
10
20
30
40
100
All Rows
Additional Information
External Database Links
1 to 6 of 6 rows
3
5
10
20
40
100
All Rows
Database
Acc Id
Source(s)
ClinVar
RCV000390818
CLINVAR
dbSNP (RS)
rs1580
CLINVAR
MedGen
C4310808
CLINVAR
NCBI Gene
PDE8B
CLINVAR
OMIM
603390
CLINVAR
609161
CLINVAR
1 to 6 of 6 rows
3
5
10
20
40
100
All Rows