RGD:8595174 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:8595174 -  Homo sapiens

RGD ID: 8595174
RS ID: rs397514031
ClinVar ID: CV15874
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APC  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 112,111,325
GRCh38 5 112,775,628
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
LRG_130:g.88108G>A
NG_008481.4:g.88108G>A
NC_000005.10:g.112775628G>A
NC_000005.9:g.112111325G>A
More... 		11/03/2021 splice acceptor variant|splice-3 pathogenic|conflicting interpretations of pathogenicity|uncertain significance adulthood 1-9 / 100 000|2.29 to 3.2 per 100,000 individuals APC-Associated Polyposis Conditions; Cancer predisposition; FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; POLYPOSIS, ADENOMATOUS INTESTINAL; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:APC
Accession:NM_001354906
Location:5UTRS;INTRON

Gene Symbol:APC
Accession:NM_001407470
Location:5UTRS;INTRON

Gene Symbol:APC
Accession:NM_001407472
Location:5UTRS;INTRON

Gene Symbol:APC
Accession:NM_001407471
Location:5UTRS;INTRON

Gene Symbol:APC
Accession:NM_001127511
Location:INTRON

Gene Symbol:APC
Accession:NM_001127510
Location:INTRON

Gene Symbol:APC
Accession:NM_000038
Location:INTRON

Gene Symbol:APC
Accession:NM_001354895
Location:INTRON

Gene Symbol:APC
Accession:NM_001354897
Location:INTRON

Gene Symbol:APC
Accession:NM_001354902
Location:INTRON

Gene Symbol:APC
Accession:NM_001354898
Location:INTRON

Gene Symbol:APC
Accession:NM_001354904
Location:INTRON

Gene Symbol:APC
Accession:NM_001354896
Location:INTRON

Gene Symbol:APC
Accession:NM_001354903
Location:INTRON

Gene Symbol:APC
Accession:NM_001354899
Location:INTRON

Gene Symbol:APC
Accession:NM_001354900
Location:INTRON

Gene Symbol:APC
Accession:NM_001354901
Location:INTRON

Gene Symbol:APC
Accession:NM_001354905
Location:INTRON

Gene Symbol:APC
Accession:NM_001407447
Location:INTRON

Gene Symbol:APC
Accession:NM_001407456
Location:INTRON

Gene Symbol:APC
Accession:NM_001407460
Location:INTRON

Gene Symbol:APC
Accession:NM_001407452
Location:INTRON

Gene Symbol:APC
Accession:NM_001407469
Location:INTRON

Gene Symbol:APC
Accession:NM_001407446
Location:INTRON

Gene Symbol:APC
Accession:NM_001407448
Location:INTRON

Gene Symbol:APC
Accession:NM_001407450
Location:INTRON

Gene Symbol:APC
Accession:NM_001407457
Location:INTRON

Gene Symbol:APC
Accession:NM_001407458
Location:INTRON

Gene Symbol:APC
Accession:NM_001407453
Location:INTRON

Gene Symbol:APC
Accession:NM_001407449
Location:INTRON

Gene Symbol:APC
Accession:NM_001407455
Location:INTRON

Gene Symbol:APC
Accession:NM_001407459
Location:INTRON

Gene Symbol:APC
Accession:NM_001407451
Location:INTRON

Gene Symbol:APC
Accession:NM_001407454
Location:INTRON

Gene Symbol:APC
Accession:NM_001407467
Location:INTRON

Gene Symbol:APC
Accession:NR_176366
Location:INTRON;NON-CODING

Gene Symbol:APC
Accession:NR_176365
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9664575   PMID:10598803   PMID:10982189   PMID:11960572   PMID:14574009   PMID:15459959   PMID:17039269   PMID:20223039   PMID:20685668   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000000878 CLINVAR
  RCV000491238 CLINVAR
  RCV000502154 CLINVAR
  RCV003337230 CLINVAR
dbSNP (RS) rs397514031 CLINVAR
MedGen C0027672 CLINVAR
  C2713442 CLINVAR
  C3661900 CLINVAR
NCBI Gene APC CLINVAR
OMIM 175100 CLINVAR
  611731 CLINVAR
OMIM Allele 611731.0043 CLINVAR
SNOMED CT 699346009 CLINVAR