RGD:13212600 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:13212600 -  Homo sapiens

RGD ID: 13212600
RS ID: rs1264741133
ClinVar ID: CV427002
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCC6  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 16,284,020
GRCh38 16 16,190,163
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000016.10:g.16190163C>A
NC_000016.9:g.16284020C>A
NM_001351800.1:c.1293+1G>T
NG_007558.3:g.38455G>T
More... 		03/02/2021 splice donor variant pathogenic|likely pathogenic all ages 1-9 / 100 000 Gronblad Strandberg syndrome
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ABCC6
Accession:NM_001171
Location:INTRON

Gene Symbol:ABCC6
Accession:NM_001351800
Location:INTRON

Gene Symbol:ABCC6
Accession:NM_001079528
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

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

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

Gene Symbol:ABCC6
Accession:NR_147784
Location:INTRON;NON-CODING

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

Variant Samples
Additional References at PubMed
PMID:24727260  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000499035 CLINVAR
dbSNP (RS) rs1264741133 CLINVAR
MedGen C1275116 CLINVAR
NCBI Gene ABCC6 CLINVAR
OMIM 264800 CLINVAR
  603234 CLINVAR