RGD:14724146 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:14724146 -  Homo sapiens

RGD ID: 14724146
RS ID: rs1601723767
ClinVar ID: CV649260
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHEK2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 29,091,861
GRCh38 22 28,695,873
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_145862.2:c.1009A>G
NM_007194.4:c.1096A>G
NM_001005735.2:c.1225A>G
NM_001257387.2:c.433A>G
More... 		11/21/2018 missense variant uncertain significance Breast cancer, familial; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHEK2
Accession:XM_011529845
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_011529844
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_006724114
Location:INTRON

Gene Symbol:CHEK2
Accession:NM_145862
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_006724116
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_024452148
Location:INTRON

Gene Symbol:CHEK2
Accession:NM_001005735
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_024452149
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_011529840
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_011529842
Location:INTRON

Gene Symbol:CHEK2
Accession:NM_001349956
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441104
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441105
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441107
Location:INTRON

Gene Symbol:CHEK2
Accession:NM_001257387
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441106
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_011529839
Location:INTRON

Gene Symbol:CHEK2
Accession:NM_007194
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_017028560
Location:INTRON

Gene Symbol:CHEK2
Accession:XM_047441108
Location:INTRON

Gene Symbol:CHEK2
Accession:XR_937806
Location:INTRON;NON-CODING

Gene Symbol:CHEK2
Accession:XR_937807
Location:INTRON;NON-CODING

Gene Symbol:CHEK2
Accession:XR_007067955
Location:INTRON;NON-CODING

Gene Symbol:CHEK2
Accession:XR_007067954
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000798277 CLINVAR
  RCV002442644 CLINVAR
dbSNP (RS) rs1601723767 CLINVAR
MedGen C0027672 CLINVAR
  C0346153 CLINVAR
NCBI Gene CHEK2 CLINVAR
OMIM 114480 CLINVAR
  604373 CLINVAR
SNOMED CT 254843006 CLINVAR
  699346009 CLINVAR