RGD:13523598 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:13523598 -  Homo sapiens

RGD ID: 13523598
RS ID: rs1555455109
ClinVar ID: CV490194
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCCA  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 13 101,077,884
GRCh38 13 100,425,630
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008768.1:g.341548C>G
NC_000013.11:g.100425630C>G
NC_000013.10:g.101077884C>G
NM_001178004.2:c.1747-3C>G
More... 		01/12/2017 intron variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:PCCA
Accession:XM_047430370
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020605
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020606
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020607
Location:INTRON

Gene Symbol:PCCA
Accession:NM_001352608
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020611
Location:INTRON

Gene Symbol:PCCA
Accession:NM_001352605
Location:INTRON

Gene Symbol:PCCA
Accession:NM_001352611
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430377
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020613
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430372
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430376
Location:INTRON

Gene Symbol:PCCA
Accession:XM_011521093
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430375
Location:INTRON

Gene Symbol:PCCA
Accession:NM_001178004
Location:INTRON

Gene Symbol:PCCA
Accession:NM_001352610
Location:INTRON

Gene Symbol:PCCA
Accession:NM_001352606
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020615
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020616
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430373
Location:INTRON

Gene Symbol:PCCA
Accession:NM_001352609
Location:INTRON

Gene Symbol:PCCA
Accession:NM_000282
Location:INTRON

Gene Symbol:PCCA
Accession:NM_001127692
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020612
Location:INTRON

Gene Symbol:PCCA
Accession:XM_017020609
Location:INTRON

Gene Symbol:PCCA
Accession:NM_001352612
Location:INTRON

Gene Symbol:PCCA
Accession:NM_001352607
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430371
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430374
Location:INTRON

Gene Symbol:PCCA
Accession:XM_047430378
Location:INTRON

Gene Symbol:PCCA
Accession:NR_148027
Location:INTRON;NON-CODING

Gene Symbol:PCCA
Accession:NR_148028
Location:INTRON;NON-CODING

Gene Symbol:PCCA
Accession:NR_148029
Location:INTRON;NON-CODING

Gene Symbol:PCCA
Accession:NR_148030
Location:INTRON;NON-CODING

Gene Symbol:PCCA
Accession:NR_148031
Location:INTRON;NON-CODING

Gene Symbol:PCCA
Accession:XR_007063681
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000593206 CLINVAR
dbSNP (RS) rs1555455109 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PCCA CLINVAR
OMIM 232000 CLINVAR