RGD:13617840 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:13617840 -  Homo sapiens

RGD ID: 13617840
RS ID: rs1553423955
ClinVar ID: CV516340
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PROC  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 128,180,492
GRCh38 2 127,422,916
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_599t1:c.238-1G>A
LRG_599:g.9497G>A
NG_016323.1:g.9497G>A
NC_000002.12:g.127422916G>A
More... 		10/24/2017 splice acceptor variant likely pathogenic PROC DEFICIENCY, AUTOSOMAL DOMINANT; Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PROC
Accession:XM_017004505
Location:5UTRS;INTRON

Gene Symbol:PROC
Accession:XM_024453002
Location:5UTRS;INTRON

Gene Symbol:PROC
Accession:XM_047445118
Location:5UTRS;INTRON

Gene Symbol:PROC
Accession:NM_001375604
Location:INTRON

Gene Symbol:PROC
Accession:NM_001375605
Location:INTRON

Gene Symbol:PROC
Accession:NM_001375611
Location:INTRON

Gene Symbol:PROC
Accession:NM_001375610
Location:INTRON

Gene Symbol:PROC
Accession:XM_024453003
Location:INTRON

Gene Symbol:PROC
Accession:NM_001375607
Location:INTRON

Gene Symbol:PROC
Accession:NM_001375606
Location:INTRON

Gene Symbol:PROC
Accession:XM_047445117
Location:INTRON

Gene Symbol:PROC
Accession:NM_001375609
Location:INTRON

Gene Symbol:PROC
Accession:NM_001375608
Location:INTRON

Gene Symbol:PROC
Accession:NM_001375613
Location:INTRON

Gene Symbol:PROC
Accession:NM_001375603
Location:INTRON

Gene Symbol:PROC
Accession:NM_000312
Location:INTRON

Gene Symbol:PROC
Accession:NM_001375602
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:17152060   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000645702 CLINVAR
dbSNP (RS) rs1553423955 CLINVAR
MedGen C2674321 CLINVAR
NCBI Gene PROC CLINVAR
OMIM 176860 CLINVAR
  612283 CLINVAR