RGD:405249617 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
Phenotype
Imported Human Phenotype -
Variant Details
Variant Transcripts
Variant Samples
PubMed References
Additional Information
External Database Links
Variant: RGD:405249617 - Homo sapiens
RGD ID:
405249617
ClinVar ID:
CV2983628
Genic Status:
GENIC
Type:
SNV
(SO:0001483)
Associated Genes:
CBR4
PALLD
Reference Nucleotide:
C
Variant Nucleotide:
G
Position
Assembly
Chr
Position
GRCh37
4
169,846,078
GRCh38
4
168,924,927
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
NM_001367567.1:c.1053-18C>G
NM_001367569.1:c.1053-18C>G
NM_001367568.1:c.1104-18C>G
NM_001367570.1:c.1104-18C>G
NM_001166110.2:c.1713-18C>G
NM_001166109.2:c.2028-18C>G
NM_016081.4:c.3174-18C>G
NM_001166108.2:c.3225-18C>G
NG_013376.1:g.432862C>G
NC_000004.12:g.168924927C>G
NC_000004.11:g.169846078C>G
More...
01/15/2023
intron variant
likely benign
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)
CV2983628
Human
pancreatic adenocarcinoma
IAGP
8554872
ClinVar Annotator: match by term: Pancreatic adenocarcinoma
ClinVar
PMID:28492532
1 to 1 of 1 rows
10
20
30
40
100
All Rows
Phenotype Annotations
Click to see Annotation Summary View
Imported Human Phenotype 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)
CV2983628
Human
Pancreatic adenocarcinoma
IAGP
8554872
ClinVar Annotator: match by term: Pancreatic adenocarcinoma
ClinVar
PMID:28492532
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
pancreatic adenocarcinoma
(IAGP)
1 to 1 of 1 rows
10
20
30
40
100
All Rows
Phenotype Annotations
Click to see Annotation Summary View
Human Phenotype
1 to 1 of 1 rows
10
20
30
40
100
All Rows
Pancreatic adenocarcinoma
(IAGP)
1 to 1 of 1 rows
10
20
30
40
100
All Rows
Variant Details
Variant Transcripts
Gene Symbol:
PALLD
Accession:
XM_011531775
Location:
INTRON
Gene Symbol:
PALLD
Accession:
XM_011531772
Location:
INTRON
Gene Symbol:
PALLD
Accession:
XM_047449863
Location:
INTRON
Gene Symbol:
PALLD
Accession:
XM_047449868
Location:
INTRON
Gene Symbol:
PALLD
Accession:
NM_001166109
Location:
INTRON
Gene Symbol:
CBR4
Accession:
XM_011532385
Location:
INTRON
Gene Symbol:
CBR4
Accession:
XM_006714391
Location:
INTRON
Gene Symbol:
PALLD
Accession:
XM_011531769
Location:
INTRON
Gene Symbol:
PALLD
Accession:
XM_047449861
Location:
INTRON
Gene Symbol:
PALLD
Accession:
XM_024453940
Location:
INTRON
Gene Symbol:
PALLD
Accession:
NM_001367570
Location:
INTRON
Gene Symbol:
PALLD
Accession:
NM_001367567
Location:
INTRON
Gene Symbol:
PALLD
Accession:
XM_047449862
Location:
INTRON
Gene Symbol:
PALLD
Accession:
XM_047449867
Location:
INTRON
Gene Symbol:
PALLD
Accession:
XM_024453939
Location:
INTRON
Gene Symbol:
PALLD
Accession:
XM_011531774
Location:
INTRON
Gene Symbol:
CBR4
Accession:
XM_017008783
Location:
INTRON
Gene Symbol:
CBR4
Accession:
NM_032783
Location:
INTRON
Gene Symbol:
PALLD
Accession:
NM_001166108
Location:
INTRON
Gene Symbol:
CBR4
Accession:
XM_017008782
Location:
INTRON
Gene Symbol:
PALLD
Accession:
NM_001367569
Location:
INTRON
Gene Symbol:
PALLD
Accession:
XM_047449864
Location:
INTRON
Gene Symbol:
PALLD
Accession:
NM_016081
Location:
INTRON
Gene Symbol:
PALLD
Accession:
XM_011531773
Location:
INTRON
Gene Symbol:
PALLD
Accession:
XM_047449870
Location:
INTRON
Gene Symbol:
PALLD
Accession:
XM_011531768
Location:
INTRON
Gene Symbol:
CBR4
Accession:
XM_047416331
Location:
INTRON
Gene Symbol:
PALLD
Accession:
NM_001367568
Location:
INTRON
Gene Symbol:
PALLD
Accession:
XM_011531771
Location:
INTRON
Gene Symbol:
CBR4
Accession:
XM_011532386
Location:
INTRON
Gene Symbol:
CBR4
Accession:
XM_005263315
Location:
INTRON
Gene Symbol:
PALLD
Accession:
XM_047449866
Location:
INTRON
Gene Symbol:
PALLD
Accession:
NM_001166110
Location:
INTRON
Gene Symbol:
PALLD
Accession:
XM_047449865
Location:
INTRON
Gene Symbol:
PALLD
Accession:
XM_047449869
Location:
INTRON
Gene Symbol:
CBR4
Accession:
XR_001741341
Location:
INTRON;NON-CODING
Gene Symbol:
CBR4
Accession:
XR_007057980
Location:
INTRON;NON-CODING
.
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 References at PubMed
1 to 1 of 1 rows
10
20
30
40
100
All Rows
PMID:
28492532
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
RCV003747203
CLINVAR
MedGen
C0281361
CLINVAR
NCBI Gene
CBR4
CLINVAR
PALLD
CLINVAR
OMIM
608092
CLINVAR
619394
CLINVAR
1 to 6 of 6 rows
3
5
10
20
40
100
All Rows