RGD:152059387 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:152059387 -  Homo sapiens

RGD ID: 152059387
RS ID: rs768479962
ClinVar ID: CV1550110
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCNH  RASA1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 86,685,354
GRCh38 5 87,389,537
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011650.1:g.126204C>G
NC_000005.10:g.87389537C>G
NC_000005.9:g.86685354C>G
NM_022650.3:c.2529+10C>G
More... 		11/01/2021 intron variant likely benign Capillary malformation-arteriovenous malformation
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CCNH
Accession:NM_001364076
Location:INTRON

Gene Symbol:RASA1
Accession:NM_002890
Location:INTRON

Gene Symbol:CCNH
Accession:NM_001364075
Location:INTRON

Gene Symbol:CCNH
Accession:NM_001239
Location:INTRON

Gene Symbol:CCNH
Accession:XM_047417863
Location:INTRON

Gene Symbol:RASA1
Accession:NM_022650
Location:INTRON

Gene Symbol:CCNH
Accession:NM_001199189
Location:INTRON

Gene Symbol:CCNH
Accession:NM_001363539
Location:INTRON

Gene Symbol:CCNH
Accession:NR_157069
Location:INTRON;NON-CODING

Gene Symbol:CCNH
Accession:NR_157068
Location:INTRON;NON-CODING

Gene Symbol:CCNH
Accession:NR_157071
Location:INTRON;NON-CODING

Gene Symbol:CCNH
Accession:NR_157070
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002202001 CLINVAR
dbSNP (RS) rs768479962 CLINVAR
MedGen C1842180 CLINVAR
NCBI Gene CCNH CLINVAR
  RASA1 CLINVAR
OMIM 139150 CLINVAR
  601953 CLINVAR