rs515726099 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 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
Advanced Search (OLGA)

Variant: rs515726099 -  Homo sapiens

RGD ID: 8591423
RS ID: rs515726099
ClinVar ID: CV132198
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PALB2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 23,634,452
GRCh38 16 23,623,131
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_308t1:c.2835-1G>C
LRG_308:g.23227G>C
NG_007406.1:g.23227G>C
NC_000016.10:g.23623131C>G
More... 		03/17/2024 intron variant|splice acceptor variant pathogenic|likely pathogenic adult Breast cancer, familial; Cancer predisposition; Hereditary breast cancer; Hereditary Cancer Syndrome; Hereditary cancer-predisposing syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:PALB2
Accession:NM_001407301
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407305
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407310
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407307
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407298
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407300
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407296
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407302
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407304
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407312
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407299
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407309
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407314
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407313
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407297
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407308
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407306
Location:INTRON

Gene Symbol:PALB2
Accession:NM_024675
Location:INTRON

Gene Symbol:PALB2
Accession:NM_001407311
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:21285249   PMID:22241545   PMID:23448497   PMID:23935381   PMID:25099575   PMID:25741868   PMID:26720728   PMID:27779110   PMID:28492532   PMID:31206626   PMID:31843900  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000114567 CLINVAR
  RCV000220116 CLINVAR
  RCV001171468 CLINVAR
  RCV004589552 CLINVAR
dbSNP (RS) rs515726099 CLINVAR
MedGen C0027672 CLINVAR
  C0346153 CLINVAR
  C3661900 CLINVAR
NCBI Gene PALB2 CLINVAR
OMIM 114480 CLINVAR
  610355 CLINVAR
SNOMED CT 254843006 CLINVAR
  699346009 CLINVAR